Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SMARCD2	6603	broad.mit.edu	37	17	61910338	61910338	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr17:61910338C>A	uc010deb.1	-	12	1873	c.1556G>T	c.(1555-1557)aGg>aTg	p.R519M	SMARCD2_uc010wpt.1_Missense_Mutation_p.R471M|SMARCD2_uc010dea.1_Missense_Mutation_p.R444M	NM_001098426	NP_001091896	Q92925	SMRD2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 (SMARCD2), mRNA.	519					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						CAGTTCCTGCCTTCGCTGCTG	0.587000													96	74					2.12943e-44	2.63961e-44	1	1	0
TMEM159	57146	broad.mit.edu	37	16	21185458	21185458	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr16:21185458G>C	uc010vbf.2	+	4	719	c.465G>C	c.(463-465)tgG>tgC	p.W155C	TMEM159_uc002dih.4_Missense_Mutation_p.W131C|TMEM159_uc002dif.4_Missense_Mutation_p.W131C|TMEM159_uc002dig.4_Non-coding_Transcript	NM_020422	NP_065155	Q96B96	TM159_HUMAN	Homo sapiens transmembrane protein 159 (TMEM159), mRNA.	131						integral to membrane		p.F155F(1)		large_intestine(3)|lung(2)|ovary(1)	6				GBM - Glioblastoma multiforme(48;0.0972)		TCAGCTGCTGGTTTTCTCCCA	0.428000													45	52					0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30987162	30987162	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr2:30987162A>G	uc021vfn.1	-	4	567	c.535T>C	c.(535-537)Tcc>Ccc	p.S179P	CAPN13_uc021vfm.1_Missense_Mutation_p.S179P|CAPN13_uc002rnp.1_Missense_Mutation_p.S179P	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	179	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TCGGAATAGGATCCGAGCAGC	0.577000													46	71					0	0	1	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139906526	139906526	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr5:139906526G>A	uc003lfs.2	+	26	5108	c.4954G>A	c.(4954-4956)Gtg>Atg	p.V1652M	ANKHD1-EIF4EBP3_uc003lfr.3_Missense_Mutation_p.V1652M|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.V391M|ANKHD1-EIF4EBP3_uc003lfw.3_Missense_Mutation_p.V290M|ANKHD1-EIF4EBP3_uc010jfl.3_Missense_Mutation_p.V87M|ANKHD1-EIF4EBP3_uc003lfx.1_5'Flank	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	1652						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAGGTGAAGTGACTCCTAA	0.383000													49	69					0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179339155	179339155	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr1:179339155C>G	uc001gmo.3	+	3	703	c.316C>G	c.(316-318)Cga>Gga	p.R106G	AXDND1_uc001gmn.2_5'UTR|AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.R64G	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	106										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TCACCCTGTTCGAAGGAATAA	0.438000													31	47					0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49753793	49753793	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr6:49753793C>G	uc003ozu.3	-	0	1261	c.1108G>C	c.(1108-1110)Gtt>Ctt	p.V370L		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	370					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	p.V370V(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CCCCCTATAACAGTGATGCAG	0.498000													48	107					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186672719	186672719	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr2:186672719T>C	uc002upl.3	+	16	18953	c.18953T>C	c.(18952-18954)aTt>aCt	p.I6318T	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAAAGTAAGATTAAACTTGTA	0.308000													9	92					0	0	1	0	0
ZSWIM6	57688	broad.mit.edu	37	5	60840060	60840060	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr5:60840060G>T	uc003jsr.3	+	13	3564	c.3564G>T	c.(3562-3564)caG>caT	p.Q1188H		NM_020928	NP_065979	Q9HCJ5	ZSWM6_HUMAN	Homo sapiens zinc finger, SWIM-type containing 6 (ZSWIM6), mRNA.	1188							zinc ion binding	p.I1187I(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)	8						GACACATTCAGTTTACACAGT	0.423000													39	65					2.46787e-29	2.87918e-29	1	1	0
TTN	7273	broad.mit.edu	37	2	179598545	179598545	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr2:179598545C>A	uc021vsy.1	-	49	12064	c.11839G>T	c.(11839-11841)Gtg>Ttg	p.V3947L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V608L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4874							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACCCTCTCACAGCAGCTTGC	0.423000													52	67					1.80625e-27	2.08684e-27	1	1	0
ANK1	286	broad.mit.edu	37	8	41547822	41547822	+	Silent	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr8:41547822G>A	uc003xok.3	-	32	4111	c.4027C>T	c.(4027-4029)Ctg>Ttg	p.L1343L	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Silent_p.L659L|ANK1_uc003xoi.3_Silent_p.L1343L|ANK1_uc003xoj.3_Silent_p.L1343L|ANK1_uc003xol.3_Silent_p.L1343L|ANK1_uc003xom.3_Silent_p.L1384L	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1343					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCCTTGCGCAGAAACGACAGG	0.597000													44	63					0	0	1	0	0
FAM182A	284800	broad.mit.edu	37	20	26061817	26061817	+	RNA	SNP	T	T	C	rs139582789	by1000genomes	TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr20:26061817T>C	uc010gdq.3	+	3		c.878T>C								Homo sapiens family with sequence similarity 182, member A (FAM182A), non-coding RNA.									p.C57R(2)		breast(1)|endometrium(2)|kidney(1)	4						TGATTTCTCCTGCTTAGAAAT	0.468000													3	74					0	0	1	0	0
RUFY3	22902	broad.mit.edu	37	4	71629308	71629308	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr4:71629308G>A	uc003hfr.3	+	2	987	c.392G>A	c.(391-393)gGg>gAg	p.G131E	RUFY3_uc003hfp.4_Missense_Mutation_p.G191E|RUFY3_uc003hfq.3_Missense_Mutation_p.G131E|RUFY3_uc011cax.2_Missense_Mutation_p.G149E|RUFY3_uc011cay.2_Missense_Mutation_p.G67E	NM_001037442	NP_001032519	Q7L099	RUFY3_HUMAN	Homo sapiens RUN and FYVE domain containing 3 (RUFY3), transcript variant 1, mRNA.	131	RUN.				negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			TCCTTCTGGGGGCCTCTAGAA	0.368000													39	38					0	0	1	0	0
TDRD3	81550	broad.mit.edu	37	13	61060035	61060035	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr13:61060035G>A	uc001vhz.4	+	6	1179	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	TDRD3_uc010aef.2_5'UTR|TDRD3_uc001via.3_Missense_Mutation_p.E131K|TDRD3_uc010aeg.3_Missense_Mutation_p.E224K|TDRD3_uc001vib.4_Missense_Mutation_p.E130K	NM_001146071	NP_110421	Q9H7E2	TDRD3_HUMAN	Homo sapiens tudor domain containing 3 (TDRD3), transcript variant 3, mRNA.	131					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		TGATGAATTTGAAAAGCAAAG	0.348000													3	41					0	0	1	0	0
TBC1D26	353149	broad.mit.edu	37	17	15641610	15641610	+	Missense_Mutation	SNP	A	A	G	rs146288175	by1000genomes	TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr17:15641610A>G	uc010cov.3	+	6	546	c.296A>G	c.(295-297)tAc>tGc	p.Y99C	TBC1D26_uc010cou.1_Missense_Mutation_p.Y99C|TBC1D26_uc002gpb.4_Non-coding_Transcript	NM_178571	NP_848666	Q86UD7	TBC26_HUMAN	Homo sapiens TBC1 domain family, member 26 (TBC1D26), mRNA.	99						intracellular	Rab GTPase activator activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		CAAAGAGTATACAAAGTCATT	0.527000													6	187					0	0	1	0	0
ATP6V0D1	9114	broad.mit.edu	37	16	67487539	67487539	+	Silent	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr16:67487539G>A	uc010vjo.1	-	1	310	c.210C>T	c.(208-210)atC>atT	p.I70I	ATP6V0D1_uc002ete.1_Silent_p.I70I|ATP6V0D1_uc010vjn.1_5'UTR	NM_004691	NP_004682	P61421	VA0D1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1 (ATP6V0D1), mRNA.	70					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex				large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		GCCGGTCATCGATGACTGACA	0.532000													52	64					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114302186	114302186	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr7:114302186G>A	uc003vhb.3	+	13	2088	c.1714G>A	c.(1714-1716)Gta>Ata	p.V572I	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Missense_Mutation_p.V597I|FOXP2_uc003vha.3_Missense_Mutation_p.V480I|FOXP2_uc011kmv.2_Missense_Mutation_p.V571I|FOXP2_uc011kmu.2_Missense_Mutation_p.V589I|FOXP2_uc010ljz.2_Missense_Mutation_p.V387I|FOXP2_uc003vhe.1_Missense_Mutation_p.V142I	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	572					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TAAAGGAGCAGTATGGACTGT	0.393000													42	130					0	0	1	0	0
FAM161A	84140	broad.mit.edu	37	2	62067237	62067237	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr2:62067237T>C	uc002sbm.4	-	2	1004	c.902A>G	c.(901-903)aAg>aGg	p.K301R	FAM161A_uc002sbn.4_Missense_Mutation_p.K111R|FAM161A_uc010ypo.2_Missense_Mutation_p.K301R|FAM161A_uc010fcm.1_Non-coding_Transcript|FAM161A_uc010fcn.1_Missense_Mutation_p.K192R	NM_001201543	NP_001188472	Q3B820	F161A_HUMAN	Homo sapiens family with sequence similarity 161, member A (FAM161A), transcript variant 1, mRNA.	301					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTCTTTTTGCTTGACTAAATC	0.418000													16	20					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152536245	152536245	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr2:152536245G>C	uc021vrb.1	-	29	3274	c.3245C>G	c.(3244-3246)gCg>gGg	p.A1082G	NEB_uc002txu.3_Missense_Mutation_p.A1082G|NEB_uc021vrc.1_Missense_Mutation_p.A1082G|NEB_uc010fnx.3_Missense_Mutation_p.A1082G|NEB_uc021vrd.1_Missense_Mutation_p.A1082G	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1082					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTCACTCGCCGCCTGCCTGGC	0.512000													22	19					0	0	1	0	0
ACCSL	390110	broad.mit.edu	37	11	44079985	44079985	+	Silent	SNP	C	C	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr11:44079985C>T	uc001mxw.1	+	11	1502	c.1446C>T	c.(1444-1446)ctC>ctT	p.L482L	ACCSL_uc009ykr.2_Silent_p.L301L	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	Homo sapiens 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like (ACCSL), mRNA.	482							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						GCTCTGGCCTCTATGTCTGGA	0.532000													52	54					0	0	1	0	0
DOM3Z	1797	broad.mit.edu	37	6	31938842	31938842	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr6:31938842C>T	uc003nyp.1	-	2	772	c.439G>A	c.(439-441)Gag>Aag	p.E147K	DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_3'UTR|STK19_uc003nyt.3_5'Flank|STK19_uc011dow.2_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.3_5'Flank|STK19_uc003nyw.3_5'Flank|STK19_uc010jtn.1_5'Flank	NM_005510	NP_005501	O77932	DOM3Z_HUMAN	Homo sapiens dom-3 homolog Z (C. elegans) (DOM3Z), mRNA.	147							identical protein binding|metal ion binding|nucleotide binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7						TGCCAGCCCTCCTGCCGCTCA	0.642000													25	37					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64968540	64968540	+	Silent	SNP	A	A	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr10:64968540A>G	uc001jmn.3	-	9	3189	c.2889T>C	c.(2887-2889)ttT>ttC	p.F963F	JMJD1C_uc001jml.3_Silent_p.F744F|JMJD1C_uc001jmm.3_Silent_p.F675F|JMJD1C_uc010qiq.2_Silent_p.F781F|JMJD1C_uc009xpi.3_Silent_p.F781F|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc009xpk.1_5'UTR	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	963					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					ATGGTTCCATAAAAGCTTTTC	0.348000													10	15					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155313421	155313421	+	Silent	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr1:155313421G>A	uc009wqq.3	-	22	8589	c.8109C>T	c.(8107-8109)cgC>cgT	p.R2703R	ASH1L_uc001fkt.3_Silent_p.R2698R	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	2703	BAH.				DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GCTTCTCAATGCGAAAGATGT	0.493000													55	89					0	0	1	0	0
LMNA	4000	broad.mit.edu	37	1	156107474	156107474	+	Silent	SNP	A	A	C			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr1:156107474A>C	uc001fni.2	+	9	1887	c.1638A>C	c.(1636-1638)tcA>tcC	p.S546S	LMNA_uc001fnf.1_Silent_p.S546S|LMNA_uc001fng.2_Silent_p.S546S|LMNA_uc001fnh.2_Intron|LMNA_uc009wro.1_Silent_p.S546S|LMNA_uc010pgz.1_Silent_p.S434S|LMNA_uc001fnj.2_Silent_p.S465S|LMNA_uc001fnk.2_Silent_p.S447S|LMNA_uc010pha.1_Silent_p.S202S	NM_170707	NP_733821	P02545	LMNA_HUMAN	Homo sapiens lamin A/C (LMNA), transcript variant 1, mRNA.	546	Tail.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					TGGTGCGCTCAGTGACTGTGG	0.622000									Werner syndrome;Hutchinson-Gilford Progeria Syndrome				24	34					0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21214557	21214557	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr16:21214557G>T	uc010bwn.1	-	9	1187	c.1105C>A	c.(1105-1107)Cta>Ata	p.L369I	ZP2_uc002dii.2_Missense_Mutation_p.L330I	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	330					binding of sperm to zona pellucida|intracellular protein transport	Golgi apparatus|endoplasmic reticulum|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TGATGGAGTAGGCATTTTTCA	0.483000													21	16					8.58068e-18	9.81828e-18	1	1	0
DDX58	23586	broad.mit.edu	37	9	32459420	32459420	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr9:32459420G>T	uc003zra.3	-	16	2588	c.2430C>A	c.(2428-2430)tgC>tgA	p.C810*	DDX58_uc010mjj.3_Non-coding_Transcript|DDX58_uc010mji.3_Nonsense_Mutation_p.C739*	NM_014314	NP_055129	O95786	DDX58_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 (DDX58), mRNA.	810	Repressor domain.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TGCACTTTCTGCAGAGCAGTT	0.388000													4	32					1	1	1	1	0
SF3B1	23451	broad.mit.edu	37	2	198265131	198265131	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr2:198265131T>C	uc002uue.3	-	18	2794	c.2746A>G	c.(2746-2748)Aca>Gca	p.T916A	SNORD2_uc021vul.1_5'Flank	NM_012433	NP_036565	O75533	SF3B1_HUMAN	Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.	916					nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTAACCACTGTGCCAAAGCCG	0.358000			Mis		myelodysplastic syndrome								63	74					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37271815	37271815	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr1:37271815G>A	uc001caz.2	-	13	2339	c.2204C>T	c.(2203-2205)gCg>gTg	p.A735V	GRIK3_uc001cba.1_Missense_Mutation_p.A735V	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	735					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CATGAGCAGCGCGTAGTCGGC	0.612000													3	125					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116415115	116415115	+	Missense_Mutation	SNP	T	T	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr7:116415115T>G	uc003vij.3	+	14	3396	c.3209T>G	c.(3208-3210)gTg>gGg	p.V1070G	MET_uc010lkh.3_Missense_Mutation_p.V1088G|MET_uc011knj.2_Missense_Mutation_p.V640G	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	1070					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.V1088E(1)|p.Q1029_G1105del(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CAGCATGTAGTGATTGGGCCC	0.433000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				91	63					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30976286	30976286	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr16:30976286C>A	uc002ead.1	+	6	1909	c.1223C>A	c.(1222-1224)tCt>tAt	p.S408Y		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	408	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TTCCCACCTTCTTACACCTCC	0.662000													15	31					6.94344e-10	7.44387e-10	1	1	0
CACNA2D2	9254	broad.mit.edu	37	3	50513567	50513567	+	Silent	SNP	G	G	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr3:50513567G>T	uc003daq.3	-	1	308	c.270C>A	c.(268-270)ggC>ggA	p.G90G	CACNA2D2_uc003dap.3_Silent_p.G90G	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	90					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	GCTGCTGGACGCCTCCAAAAA	0.597000													8	15					1.76689e-08	1.87732e-08	1	1	0
RBBP8	5932	broad.mit.edu	37	18	20562277	20562277	+	Silent	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr18:20562277G>A	uc002kua.3	+	6	648	c.525G>A	c.(523-525)cgG>cgA	p.R175R	RBBP8_uc002ktw.3_Silent_p.R175R|RBBP8_uc002kty.3_Silent_p.R175R|RBBP8_uc002ktz.3_Silent_p.R175R|RBBP8_uc002ktx.1_Silent_p.R175R	NM_203291	NP_976036	Q99708	COM1_HUMAN	Homo sapiens retinoblastoma binding protein 8 (RBBP8), transcript variant 2, mRNA.	175					DNA double-strand break processing involved in repair via single-strand annealing|cell cycle checkpoint|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			GCGTTAACCGGCTACGAAGAA	0.433000								Homologous recombination					33	69					0	0	1	0	0
NDOR1	27158	broad.mit.edu	37	9	140108261	140108261	+	Missense_Mutation	SNP	G	G	A	rs139188702	byFrequency	TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr9:140108261G>A	uc004clx.3	+	3	452	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	NDOR1_uc004clw.3_Missense_Mutation_p.R114Q|NDOR1_uc011mes.2_Missense_Mutation_p.R114Q|NDOR1_uc004cly.3_Missense_Mutation_p.R114Q	NM_001144026	NP_001137498	Q9UHB4	NDOR1_HUMAN	Homo sapiens NADPH dependent diflavin oxidoreductase 1 (NDOR1), transcript variant 1, mRNA.	114	Flavodoxin-like.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	FMN binding|NADP binding|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		AAGCTGCACCGACGGCTACTG	0.677000													41	46					0	0	1	0	0
ATXN2	6311	broad.mit.edu	37	12	111926345	111926345	+	Silent	SNP	A	A	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr12:111926345A>G	uc001tsj.3	-	14	2817	c.2655T>C	c.(2653-2655)gtT>gtC	p.V885V	ATXN2_uc001tsh.3_Silent_p.V620V|ATXN2_uc001tsi.3_Silent_p.V596V|ATXN2_uc001tsk.3_Non-coding_Transcript	NM_002973	NP_002964	Q99700	ATX2_HUMAN	Homo sapiens ataxin 2 (ATXN2), mRNA.	885					RNA metabolic process|RNA transport|cell death|cytoplasmic mRNA processing body assembly|regulation of translation|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	RNA binding|protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TGGAAGTCTGAACCCCTTGGG	0.498000													65	55					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79820297	79820297	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr9:79820297A>G	uc004akr.3	+	3	516	c.256A>G	c.(256-258)Att>Gtt	p.I86V	VPS13A_uc004akp.4_Missense_Mutation_p.I86V|VPS13A_uc004akq.4_Missense_Mutation_p.I86V|VPS13A_uc004aks.3_Missense_Mutation_p.I86V	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	86					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATTGGAAGAAATTTATTTACT	0.229000													20	15					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78591182	78591182	+	Splice_Site	SNP	G	G	C			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr12:78591182G>C	uc001syp.3	+	35	6619	c.6446_splice	c.e35+1	p.C2149_splice	NAV3_uc001syo.3_Splice_Site_p.C2127_splice|NAV3_uc010sub.2_Splice_Site_p.C1606_splice|NAV3_uc009zsf.3_Splice_Site_p.C958_splice	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	2149						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACAACAAATGGTATGCTTATC	0.284000										HNSCC(70;0.22)			11	9					0	0	1	0	0
CTSL2	1515	broad.mit.edu	37	9	99799669	99799669	+	Missense_Mutation	SNP	T	T	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr9:99799669T>G	uc010msi.3	-	3	468	c.261A>C	c.(259-261)gaA>gaC	p.E87D	CTSL2_uc004awt.3_Missense_Mutation_p.E87D|CTSL2_uc004awu.3_Missense_Mutation_p.E32D|CTSL2_uc010msj.2_Missense_Mutation_p.E32D|CTSL2_uc010msk.3_Missense_Mutation_p.E32D	NM_001201575	NP_001188504	O60911	CATL2_HUMAN	Homo sapiens cathepsin L2 (CTSL2), transcript variant 2, mRNA.	87						lysosome	cysteine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(8)|lung(4)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(62;0.0559)				TCTGCCTGAATTCTTCATTGG	0.418000													47	50					0	0	1	0	0
GIGYF1	64599	broad.mit.edu	37	7	100279805	100279805	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr7:100279805C>T	uc003uwg.1	-	21	3824	c.2815G>A	c.(2815-2817)Gat>Aat	p.D939N		NM_022574	NP_072096	O75420	PERQ1_HUMAN	Homo sapiens GRB10 interacting GYF protein 1 (GIGYF1), mRNA.	939										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CGGATATAATCGTGGACATCA	0.597000													3	51					0	0	1	0	0
GAB4	128954	broad.mit.edu	37	22	17488934	17488934	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr22:17488934G>A	uc002zlw.3	-	0	179	c.71C>T	c.(70-72)tCg>tTg	p.S24L	GAB4_uc010gqs.1_Missense_Mutation_p.S24L	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	24										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TCCGGGCCACGAAGACAAAGG	0.682000													11	22					0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20681301	20681301	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr16:20681301A>T	uc002dhm.1	-	4	828	c.760T>A	c.(760-762)Tta>Ata	p.L254I	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.L254I	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	254					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						AGGCTCCGTAATTTCCTACTA	0.512000													63	97					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16969640	16969640	+	Splice_Site	SNP	G	G	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr1:16969640G>T	uc001azg.1	-	2		c.39_splice	c.e2-1		CROCCP2_uc001azi.1_Splice_Site|CROCCP2_uc001azj.1_Splice_Site|MST1P2_uc009vow.2_5'Flank|MST1P2_uc010ocg.1_5'Flank|MST1P2_uc010och.2_5'Flank					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		GGTCCTGGAGGCTGAGGCAGA	0.632000													36	224					1.15505e-17	1.30905e-17	1	1	0
ARID2	196528	broad.mit.edu	37	12	46244883	46244883	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr12:46244883A>T	uc001ros.1	+	14	2977	c.2977A>T	c.(2977-2979)Acc>Tcc	p.T993S	ARID2_uc001ror.3_Missense_Mutation_p.T993S|ARID2_uc009zkg.1_Missense_Mutation_p.T449S|ARID2_uc009zkh.1_Missense_Mutation_p.T620S|ARID2_uc001rou.1_Missense_Mutation_p.T327S	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	993	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GTCGTCCTCTACCCCTCAATC	0.498000			"""N, S, F"""		hepatocellular carcinoma								95	223					0	0	1	0	0
KRT6B	3854	broad.mit.edu	37	12	52845508	52845508	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr12:52845508C>G	uc001sak.3	-	0	403	c.355G>C	c.(355-357)Gct>Cct	p.A119P		NM_005555	NP_005546	P04259	K2C6B_HUMAN	Homo sapiens keratin 6B (KRT6B), mRNA.	119	Head.			AGG -> LC (in Ref. 2; AAA59466).	ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		AAGCCACCAGCAAGGCCGGCT	0.627000													96	509					0	0	1	0	0
AP1G2	8906	broad.mit.edu	37	14	24030557	24030557	+	Silent	SNP	T	T	C			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr14:24030557T>C	uc001wkl.2	-	18	2278	c.1941A>G	c.(1939-1941)ccA>ccG	p.P647P	AP1G2_uc001wkk.3_Silent_p.P575P|AP1G2_uc001wkn.2_Silent_p.P266P|AX747770_uc001wko.1_Non-coding_Transcript|AP1G2_uc001wkp.1_Non-coding_Transcript	NM_003917	NP_003908	O75843	AP1G2_HUMAN	Homo sapiens adaptor-related protein complex 1, gamma 2 subunit (AP1G2), mRNA.	647					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		GGGCACCTCCTGGGGAGGGGT	0.577000													27	41					0	0	1	0	0
AGPS	8540	broad.mit.edu	37	2	178257747	178257747	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr2:178257747C>T	uc002ull.2	+	0	277	c.230C>T	c.(229-231)gCg>gTg	p.A77V	AGPS_uc010zfb.1_5'Flank|NFE2L2_uc002uli.4_5'Flank|NFE2L2_uc002ulk.1_5'Flank	NM_003659	NP_003650	O00116	ADAS_HUMAN	Homo sapiens alkylglycerone phosphate synthase (AGPS), mRNA.	77					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			ACTCCCGCCGCGCAGGAGTCG	0.692000													24	16					0	0	1	0	0
UBE2N	7334	broad.mit.edu	37	12	93804921	93804921	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr12:93804921T>A	uc001tcp.3	-	1	551	c.185A>T	c.(184-186)tAc>tTc	p.Y62F		NM_003348	NP_003339	P61088	UBE2N_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2N (UBE2N), mRNA.	62					DNA double-strand break processing|MyD88-dependent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|double-strand break repair via homologous recombination|histone ubiquitination|innate immune response|positive regulation of DNA repair|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of histone modification|positive regulation of ubiquitin-protein ligase activity|postreplication repair|protein K63-linked ubiquitination|proteolysis|regulation of histone ubiquitination|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	UBC13-MMS2 complex|UBC13-UEV1A complex|cytosol|nucleus|ubiquitin ligase complex	ATP binding|ubiquitin binding|ubiquitin-protein ligase activity			endometrium(3)|liver(2)|lung(5)	10						TGCCATTGGGTATTCTTCTGG	0.413000								Direct reversal of damage;Rad6 pathway					56	206					0	0	1	0	0
KIAA0564	23078	broad.mit.edu	37	13	42440068	42440068	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr13:42440068C>T	uc001uyj.3	-	10	1387	c.1317G>A	c.(1315-1317)atG>atA	p.M439I	KIAA0564_uc001uyk.3_Missense_Mutation_p.M439I	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	439						extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		TATCTTTAACCATGTGAGACT	0.418000													27	32					0	0	1	0	0
ZBTB10	65986	broad.mit.edu	37	8	81412103	81412103	+	Silent	SNP	T	T	C			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr8:81412103T>C	uc003ybx.4	+	1	1945	c.1347T>C	c.(1345-1347)agT>agC	p.S449S	ZBTB10_uc003ybv.4_Silent_p.S157S|ZBTB10_uc003ybw.4_Silent_p.S449S|ZBTB10_uc022awq.1_Silent_p.S449S|ZBTB10_uc010lzt.3_Silent_p.S449S|ZBTB10_uc022awr.1_Non-coding_Transcript	NM_001105539	NP_001099009	Q96DT7	ZBT10_HUMAN	Homo sapiens zinc finger and BTB domain containing 10 (ZBTB10), transcript variant 1, mRNA.	449					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			TTCAAATGAGTGAAGTTGTTC	0.373000													17	34					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204948504	204948504	+	Missense_Mutation	SNP	T	T	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr1:204948504T>G	uc010prc.2	+	17	2223	c.694T>G	c.(694-696)Ttt>Gtt	p.F232V	NFASC_uc001hbj.3_Missense_Mutation_p.F665V|NFASC_uc010pra.2_Missense_Mutation_p.F661V|NFASC_uc001hbi.3_Missense_Mutation_p.F661V|NFASC_uc010prb.2_Missense_Mutation_p.F676V|NFASC_uc001hbk.1_Missense_Mutation_p.F471V|NFASC_uc001hbl.2_5'Flank			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	665					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CGTCGTCCAGTTTGAAGAAGA	0.522000													95	164					0	0	1	0	0
SRGAP1	57522	broad.mit.edu	37	12	64521384	64521384	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr12:64521384C>G	uc010ssp.1	+	19	2476	c.2420C>G	c.(2419-2421)tCa>tGa	p.S807*	SRGAP1_uc001srv.2_Nonsense_Mutation_p.S744*	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA.	807					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		GATACGTTTTCAGACACTCTG	0.438000													124	78					0	0	1	0	0
THAP11	57215	broad.mit.edu	37	16	67876718	67876718	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr16:67876718G>T	uc002euo.3	+	0	506	c.261G>T	c.(259-261)gaG>gaT	p.E87D	CENPT_uc002eun.4_Intron	NM_020457	NP_065190	Q96EK4	THA11_HUMAN	Homo sapiens THAP domain containing 11 (THAP11), mRNA.	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		GCGTCAATGAGCGCAAAGTAG	0.687000													9	12					3.07112e-06	3.23419e-06	1	1	0
SCN11A	11280	broad.mit.edu	37	3	38966961	38966961	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr3:38966961C>G	uc021wvy.1	-	4	856	c.657G>C	c.(655-657)ttG>ttC	p.L219F		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	219					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TACGCAGGGGCAATAGTTTGA	0.463000													45	62					0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46875643	46875643	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr21:46875643C>G	uc002zhi.3	+	0	220	c.199C>G	c.(199-201)Cgg>Ggg	p.R67G	COL18A1_uc002zhg.3_Intron	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	67					cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CGTGACCCCCCGGAATGGTTC	0.647000													46	59					0	0	1	0	0
AASS	10157	broad.mit.edu	37	7	121717970	121717970	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr7:121717970C>A	uc003vka.3	-	21	2680	c.2584G>T	c.(2584-2586)Ggg>Tgg	p.G862W	AASS_uc011knu.2_Non-coding_Transcript|AASS_uc011knv.2_Non-coding_Transcript|AASS_uc003vkb.3_Missense_Mutation_p.G862W|AASS_uc011knw.2_Missense_Mutation_p.G350W	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	Homo sapiens aminoadipate-semialdehyde synthase (AASS), nuclear gene encoding mitochondrial protein, mRNA.	862	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	TTGATGTCCCCATAAGCCACA	0.438000													16	155					1.00905e-13	1.11182e-13	1	1	0
LIPE	3991	broad.mit.edu	37	19	42911843	42911843	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr19:42911843G>T	uc002otr.3	-	4	2034	c.1757C>A	c.(1756-1758)aCg>aAg	p.T586K	AK311181_uc010eif.1_Intron	NM_005357	NP_005348	Q05469	LIPS_HUMAN	Homo sapiens lipase, hormone-sensitive (LIPE), mRNA.	586					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				GATGGTGACCGTGAGCGTGGG	0.642000													34	38					9.9191e-30	1.16869e-29	1	1	0
KIAA1549	57670	broad.mit.edu	37	7	138566237	138566237	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr7:138566237G>T	uc011kql.2	-	10	4175	c.4126C>A	c.(4126-4128)Cca>Aca	p.P1376T	KIAA1549_uc011kqi.2_Missense_Mutation_p.P160T|KIAA1549_uc011kqk.2_Missense_Mutation_p.P160T|KIAA1549_uc011kqj.2_Missense_Mutation_p.P1376T	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1376						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CCTGGCAGTGGCGCTGGCTCA	0.512000			O	BRAF	pilocytic astrocytoma								60	156					6.26901e-30	7.46012e-30	1	1	0
RBMXL3	139804	broad.mit.edu	37	X	114426385	114426385	+	Missense_Mutation	SNP	G	G	A	rs80194951	by1000genomes	TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chrX:114426385G>A	uc011mte.1	+	0	2423	c.2381G>A	c.(2380-2382)cGc>cAc	p.R794H	LRCH2_uc010nqe.3_Intron|LRCH2_uc004epz.3_Intron	NM_001145346	NP_001138818	Q8N7X1	RMXL3_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 3 (RBMXL3), mRNA.	794	Gly-rich.			R -> H (in Ref. 1; AK097568).			RNA binding|nucleotide binding			endometrium(13)|kidney(2)|skin(1)	16						AGCGGAGGCCGCTCACCCAAT	0.662000													3	26					0	0	1	0	0
TTC4	7268	broad.mit.edu	37	1	55183223	55183223	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr1:55183223G>C	uc001cxv.3	+	2	453	c.321G>C	c.(319-321)aaG>aaC	p.K107N	HEATR8_uc001cxq.3_Non-coding_Transcript|TTC4_uc001cxx.4_Missense_Mutation_p.K96N			O95801	TTC4_HUMAN	Homo sapiens tetratricopeptide repeat domain 4 (TTC4), mRNA.	96							binding			breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						AAGACTACAAGAAAGCTGTAA	0.368000													42	74					0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52505969	52505969	+	Silent	SNP	C	C	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr3:52505969C>T	uc003ded.4	+	4	683	c.549C>T	c.(547-549)ttC>ttT	p.F183F	NISCH_uc003dec.1_Silent_p.F183F	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	183	Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		TCCTGGACTTCACCTGTCGCC	0.632000											OREG0015615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	202					0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48465285	48465285	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr3:48465285C>T	uc003csw.2	-	2	1006	c.736G>A	c.(736-738)Gcc>Acc	p.A246T	PLXNB1_uc003csu.2_Missense_Mutation_p.A246T|PLXNB1_uc003csx.2_Missense_Mutation_p.A246T|PLXNB1_uc010hjx.1_Non-coding_Transcript	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	246	Sema.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GATACATAGGCACGAAAAGCT	0.607000													62	81					0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43547904	43547904	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr21:43547904G>T	uc002zag.1	+	18	4037	c.4037G>T	c.(4036-4038)cGc>cTc	p.R1346L	UMODL1_uc002zad.1_Missense_Mutation_p.R1146L|UMODL1_uc002zae.1_Missense_Mutation_p.R1274L|UMODL1_uc002zaf.1_Missense_Mutation_p.R1218L|UMODL1_uc002zal.1_Missense_Mutation_p.R168L|UMODL1_uc010gpa.1_Non-coding_Transcript	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	1218						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TGCAAACTCCGCGTCTGCATG	0.468000													78	110					5.01286e-43	6.14979e-43	1	1	0
RPL13AP6	644511	broad.mit.edu	37	10	112696573	112696573	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr10:112696573T>C	uc010qrh.1	-	0	441	c.419A>G	c.(418-420)cAc>cGc	p.H140R	SHOC2_uc001kzl.4_Intron|SHOC2_uc009xxx.3_Intron|SHOC2_uc010qrg.2_Intron					Homo sapiens ribosomal protein L13a pseudogene 6 (RPL13AP6), non-coding RNA.									p.H140R(2)									GTGAGCCAGGTGCCCCAGATA	0.537000													3	10					0	0	1	0	0
GUSBP1	728411	broad.mit.edu	37	5	21459831	21459831	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr5:21459831A>G	uc010iub.3	+	1	150	c.70A>G	c.(70-72)Acc>Gcc	p.T24A	GUSBP1_uc011cnn.1_Non-coding_Transcript|GUSBP1_uc003jgh.4_Non-coding_Transcript|GUSBP1_uc003jgf.3_Missense_Mutation_p.T24A|GUSBP1_uc003jgg.4_Non-coding_Transcript					Homo sapiens glucuronidase, beta pseudogene 1 (GUSBP1), transcript variant 3, non-coding RNA.																		GCTTGCGGTCACCATGGGCTT	0.632000											OREG0016459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	67					0	0	1	0	0
LGALS9	3965	broad.mit.edu	37	17	25967635	25967635	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr17:25967635G>A	uc002gzp.3	+	2	287	c.169G>A	c.(169-171)Gac>Aac	p.D57N	LGALS9_uc002gzq.3_Missense_Mutation_p.D57N|LGALS9_uc002gzr.3_Intron|LGALS9_uc010waa.2_Intron	NM_009587	NP_033665	O00182	LEG9_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 9 (LGALS9), transcript variant 1, mRNA.	57	Galectin 1.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		CAGTGGAAATGACATTGCCTT	0.527000													169	492					0	0	1	0	0
RTKN	6242	broad.mit.edu	37	2	74656034	74656034	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr2:74656034A>G	uc002sle.3	-	6	908	c.791T>C	c.(790-792)cTc>cCc	p.L264P	RTKN_uc002slc.3_Missense_Mutation_p.L251P|RTKN_uc002sld.3_Missense_Mutation_p.L214P	NM_001015055	NP_001015056	Q9BST9	RTKN_HUMAN	Homo sapiens rhotekin (RTKN), transcript variant 1, mRNA.	264					Rho protein signal transduction|apoptosis|regulation of anti-apoptosis	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						TGCCAGGGTGAGTGTGGTGTG	0.552000													56	132					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12274330	12274330	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr12:12274330G>C	uc001rah.4	-	22	4714	c.4572C>G	c.(4570-4572)caC>caG	p.H1524Q	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.H1479Q	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	1524					Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GGGGTGCAAAGTGCCGGTAGC	0.463000													30	98					0	0	1	0	0
TMC4	147798	broad.mit.edu	37	19	54669261	54669261	+	Silent	SNP	G	G	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr19:54669261G>T	uc010erf.3	-	5	987	c.855C>A	c.(853-855)tcC>tcA	p.S285S	TMC4_uc002qdn.3_5'Flank|TMC4_uc002qdo.3_Silent_p.S279S	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN	Homo sapiens transmembrane channel-like 4 (TMC4), transcript variant 1, mRNA.	285						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCAGAGCCTCGGACTCCGCCA	0.652000													18	20					3.83957e-06	4.00797e-06	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13814812	13814812	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr5:13814812C>A	uc003jfd.2	-	42	7174	c.7132G>T	c.(7132-7134)Gag>Tag	p.E2378*		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2378	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTATGAGGCTCGAAAATGATC	0.418000									Kartagener syndrome				43	54					2.31418e-15	2.57372e-15	1	1	0
SIGLEC10	89790	broad.mit.edu	37	19	51918318	51918318	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr19:51918318C>G	uc002pwo.3	-	7	1597	c.1375G>C	c.(1375-1377)Ggt>Cgt	p.G459R	SIGLEC10_uc002pwp.3_Missense_Mutation_p.G401R|SIGLEC10_uc021uyl.1_Intron|SIGLEC10_uc002pwq.3_Intron|SIGLEC10_uc010ycz.2_Intron|SIGLEC10_uc002pws.2_Intron|SIGLEC10_uc002pwr.3_Intron|SIGLEC10_uc010ycy.2_Intron|SIGLEC10_uc010eow.3_Intron|LOC100129083_uc021uym.1_5'Flank	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	459					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CAGTGCAGACCCTCAGCCTCC	0.692000													6	12					0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55033659	55033659	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr20:55033659C>A	uc002xxp.2	+	6	2442	c.2217C>A	c.(2215-2217)caC>caA	p.H739Q	CASS4_uc010zze.1_Missense_Mutation_p.H685Q|CASS4_uc002xxr.2_Missense_Mutation_p.H739Q|CASS4_uc010gio.2_Missense_Mutation_p.H302Q	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	739					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GCAGCAGTCACCTCTGCAGCC	0.642000													9	65					0.00829132	0.00843305	1	1	0
WIPI1	55062	broad.mit.edu	37	17	66440668	66440668	+	Silent	SNP	C	C	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr17:66440668C>T	uc010dey.3	-	3	487	c.396G>A	c.(394-396)ttG>ttA	p.L132L	WIPI1_uc010wqo.2_Silent_p.L50L	NM_017983	NP_060453	Q5MNZ9	WIPI1_HUMAN	Homo sapiens WD repeat domain, phosphoinositide interacting 1 (WIPI1), mRNA.	132					macroautophagy|vesicle targeting, trans-Golgi to endosome	PAS complex|autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						GGAGGGTCTTCAACAGCTTCA	0.433000													24	62					0	0	1	0	0
REXO1	57455	broad.mit.edu	37	19	1817252	1817252	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr19:1817252G>C	uc002lua.4	-	11	3262	c.3167C>G	c.(3166-3168)aCc>aGc	p.T1056S	REXO1_uc010dsq.3_Missense_Mutation_p.T365S|REXO1_uc010xgs.1_Missense_Mutation_p.T42S|REXO1_uc021umm.1_5'Flank|REXO1_uc010dsp.1_Non-coding_Transcript	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.	1056						nucleus	exonuclease activity|nucleic acid binding	p.T1056I(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCGGGTGGGTGTCTCCTGA	0.642000													17	29					0	0	1	0	0
SIX4	51804	broad.mit.edu	37	14	61186919	61186919	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr14:61186919T>A	uc001xfc.3	-	1	1168	c.1108A>T	c.(1108-1110)Att>Ttt	p.I370F	SIX4_uc010app.1_Missense_Mutation_p.I362F	NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN	Homo sapiens SIX homeobox 4 (SIX4), mRNA.	370						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GGTCCCTGAATAAAAGAATTT	0.398000													32	56					0	0	1	0	0
JAK2	3717	broad.mit.edu	37	9	5078361	5078361	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr9:5078361G>T	uc010mhm.3	+	14	2161	c.2048G>T	c.(2047-2049)aGa>aTa	p.R683I	JAK2_uc003ziw.3_Missense_Mutation_p.R683I	NM_004972	NP_004963	O60674	JAK2_HUMAN	Homo sapiens Janus kinase 2 (JAK2), mRNA.	683	Protein kinase 1.				JAK-STAT cascade involved in growth hormone signaling pathway|STAT protein import into nucleus|actin filament polymerization|activation of JAK2 kinase activity|activation of caspase activity by protein phosphorylation|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of DNA binding|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|SH2 domain binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding	p.R683G(59)|p.R683S(18)|p.R683?(16)|p.R683T(5)|p.R683K(3)|p.I682F(2)|p.I682_D686>(2)|p.I682_R683insTG(2)|p.L681_I682insTPYEGMPGH(1)|p.(I682_E684)insQG(1)|p.I682_R683>RG(1)|p.I682>MPAP(1)|p.I682>RTL(1)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		CTGCTTATCAGAGAAGAAGAC	0.363000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				17	35					4.16121e-05	4.30595e-05	1	1	0
SLC2A14	144195	broad.mit.edu	37	12	7984344	7984344	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr12:7984344A>T	uc010sgh.2	-	2	263	c.242T>A	c.(241-243)aTc>aAc	p.I81N	SLC2A14_uc001qtk.3_Missense_Mutation_p.I66N|SLC2A14_uc001qtl.3_Missense_Mutation_p.I43N|SLC2A14_uc001qtm.3_Missense_Mutation_p.I43N|SLC2A14_uc010sgg.2_Intron|SLC2A14_uc001qtn.3_Missense_Mutation_p.I66N|SLC2A14_uc001qto.3_Intron	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.	66					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		AGTTTTATTGATAAATTCCTT	0.458000											OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	100					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116415114	116415114	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr7:116415114G>A	uc003vij.3	+	14	3395	c.3208G>A	c.(3208-3210)Gtg>Atg	p.V1070M	MET_uc010lkh.3_Missense_Mutation_p.V1088M|MET_uc011knj.2_Missense_Mutation_p.V640M	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	1070					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.Q1029_G1105del(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GCAGCATGTAGTGATTGGGCC	0.433000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				89	63					0	0	1	0	0
FASTKD3	79072	broad.mit.edu	37	5	7867451	7867451	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr5:7867451T>C	uc003jeb.3	-	1	918	c.746A>G	c.(745-747)gAa>gGa	p.E249G	FASTKD3_uc011cmp.2_5'UTR|FASTKD3_uc003jec.3_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jed.3_5'Flank|MTRR_uc003jee.4_5'Flank|MTRR_uc003jef.4_5'Flank|MTRR_uc003jeg.4_5'Flank|MTRR_uc010ito.3_5'Flank	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN	Homo sapiens FAST kinase domains 3 (FASTKD3), transcript variant 1, mRNA.	249					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGTAAATGTTTCCAATTTTTC	0.368000													9	20					0	0	1	0	0
XPO1	7514	broad.mit.edu	37	2	61705989	61705989	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr2:61705989T>C	uc010ypn.2	-	25	3311	c.3182A>G	c.(3181-3183)aAt>aGt	p.N1061S	XPO1_uc010fcl.3_Missense_Mutation_p.N1057S|XPO1_uc002sbj.3_Missense_Mutation_p.N1061S|XPO1_uc002sbk.3_Missense_Mutation_p.N622S|XPO1_uc002sbh.3_Missense_Mutation_p.N708S	NM_003400	NP_003391	O14980	XPO1_HUMAN	Homo sapiens exportin 1 (CRM1 homolog, yeast) (XPO1), mRNA.	1061					intracellular protein transport|mRNA metabolic process|mRNA transport|mitotic prometaphase|viral genome transport in host cell|viral infectious cycle	Cajal body|annulate lamellae|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	RNA binding|protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			CTCATGTGGATTAAAGATGCC	0.393000			Mis		CLL								14	18					0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14559362	14559362	+	Silent	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr3:14559362G>A	uc021wtn.1	-	11	1362	c.1362C>T	c.(1360-1362)tgC>tgT	p.C454C		NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	358					synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						AGGAGGGCACGCAGGGGTCCC	0.652000													19	12					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108381026	108381026	+	Silent	SNP	T	T	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr11:108381026T>G	uc001pkk.3	-	5	5319	c.5208A>C	c.(5206-5208)acA>acC	p.T1736T	EXPH5_uc010rvz.2_Silent_p.T1580T|EXPH5_uc010rvy.2_Silent_p.T1548T	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1736					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GGCTGGTGAATGTGATGGGTG	0.468000													37	58					0	0	1	0	0
SLCO4A1	28231	broad.mit.edu	37	20	61300283	61300283	+	Splice_Site	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr20:61300283G>A	uc002ydb.1	+	11	2082	c.1877_splice	c.e11-1	p.G626_splice	LOC100127888_uc002ydd.3_5'Flank|SLCO4A1_uc002yde.1_Splice_Site_p.G28_splice	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4A1 (SLCO4A1), mRNA.	626					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			TCTCCGCAGGGGGCATCCCGG	0.662000											OREG0026115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	6					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16969641	16969641	+	Splice_Site	SNP	C	C	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr1:16969641C>T	uc001azg.1	-	2		c.39_splice	c.e2-1		CROCCP2_uc001azi.1_Splice_Site|CROCCP2_uc001azj.1_Splice_Site|MST1P2_uc009vow.2_5'Flank|MST1P2_uc010ocg.1_5'Flank|MST1P2_uc010och.2_5'Flank					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		GTCCTGGAGGCTGAGGCAGAC	0.632000													35	220					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179598544	179598544	+	Missense_Mutation	SNP	A	A	C			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr2:179598544A>C	uc021vsy.1	-	49	12065	c.11840T>G	c.(11839-11841)gTg>gGg	p.V3947G	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V608G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4874							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGACCCTCTCACAGCAGCTTG	0.428000													54	66					0	0	1	0	0
CHD1L	9557	broad.mit.edu	37	1	146747123	146747123	+	Silent	SNP	C	C	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr1:146747123C>A	uc001epm.4	+	12	1440	c.1377C>A	c.(1375-1377)ggC>ggA	p.G459G	CHD1L_uc001epn.4_Silent_p.G346G|CHD1L_uc010ozo.2_Non-coding_Transcript|CHD1L_uc009wjg.3_Non-coding_Transcript|CHD1L_uc009wjh.3_Silent_p.G365G|CHD1L_uc010ozp.2_Silent_p.G178G|CHD1L_uc001epo.4_Silent_p.G255G|CHD1L_uc010ozq.1_Silent_p.G32G|CHD1L_uc009wji.3_Silent_p.G178G	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1-like (CHD1L), transcript variant 1, mRNA.	459	Helicase C-terminal.				DNA repair|chromatin remodeling	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					ATCGCATTGGCCAAAACAAGT	0.443000													26	47					3.28513e-13	3.58651e-13	1	1	0
DNAH6	1768	broad.mit.edu	37	2	84846836	84846836	+	Silent	SNP	T	T	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr2:84846836T>G	uc010fgb.3	+	23	3737	c.3600T>G	c.(3598-3600)ctT>ctG	p.L1200L		NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	1200	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATGATGAACTTCTGGAGATTT	0.383000													21	26					0	0	1	0	0
NSUN2	54888	broad.mit.edu	37	5	6600168	6600168	+	Silent	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr5:6600168G>A	uc003jdu.3	-	18	2556	c.2175C>T	c.(2173-2175)acC>acT	p.T725T	NSUN2_uc003jdt.3_Silent_p.T489T|NSUN2_uc011cmk.2_Silent_p.T690T|NSUN2_uc003jdv.3_Silent_p.T489T	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	Homo sapiens NOP2/Sun domain family, member 2 (NSUN2), transcript variant 1, mRNA.	725						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CTGGCTGTCCGGTGCTGGCTG	0.537000													56	64					0	0	1	0	0
P4HA1	5033	broad.mit.edu	37	10	74810906	74810906	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr10:74810906G>A	uc021ptk.1	-	5	837	c.805C>T	c.(805-807)Cag>Tag	p.Q269*	P4HA1_uc010qka.2_Nonsense_Mutation_p.Q269*|P4HA1_uc001jth.3_Nonsense_Mutation_p.Q269*|P4HA1_uc001jtg.3_Nonsense_Mutation_p.Q269*|P4HA1_uc010qkb.2_Nonsense_Mutation_p.Q269*|P4HA1_uc021ptj.1_Nonsense_Mutation_p.Q269*	NM_001142595	NP_001136067	P13674	P4HA1_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide I (P4HA1), transcript variant 3, mRNA.	269						endoplasmic reticulum lumen|mitochondrion	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GTAGTTTTCTGATCAGATTGG	0.388000													28	23					0	0	1	0	0
AASS	10157	broad.mit.edu	37	7	121717971	121717971	+	Silent	SNP	A	A	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr7:121717971A>G	uc003vka.3	-	21	2679	c.2583T>C	c.(2581-2583)taT>taC	p.Y861Y	AASS_uc011knu.2_Non-coding_Transcript|AASS_uc011knv.2_Non-coding_Transcript|AASS_uc003vkb.3_Silent_p.Y861Y|AASS_uc011knw.2_Silent_p.Y349Y	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	Homo sapiens aminoadipate-semialdehyde synthase (AASS), nuclear gene encoding mitochondrial protein, mRNA.	861	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	TGATGTCCCCATAAGCCACAA	0.433000													17	152					0	0	1	0	0
PHACTR1	221692	broad.mit.edu	37	6	13230366	13230366	+	Silent	SNP	C	C	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr6:13230366C>A	uc003nah.2	+	9	1705	c.1332C>A	c.(1330-1332)ccC>ccA	p.P444P	PHACTR1_uc011dir.2_Silent_p.P513P|PHACTR1_uc010jpc.3_Silent_p.P444P|PHACTR1_uc003nag.2_Silent_p.P444P	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Homo sapiens phosphatase and actin regulator 1 (PHACTR1), transcript variant 1, mRNA.	444						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			ACATCCTTCCCAGGCAGACGG	0.597000													74	84					4.00405e-42	4.86206e-42	1	1	0
TRPM4	54795	broad.mit.edu	37	19	49714007	49714007	+	Silent	SNP	G	G	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr19:49714007G>T	uc002pmw.3	+	21	3477	c.3369G>T	c.(3367-3369)acG>acT	p.T1123T	TRPM4_uc010emu.3_Silent_p.T978T|TRPM4_uc010yak.2_Silent_p.T587T|TRPM4_uc002pmx.3_Silent_p.T949T|TRPM4_uc010emv.3_Silent_p.T1008T|TRPM4_uc010yal.2_Silent_p.T769T|TRPM4_uc002pmy.3_Silent_p.T465T	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	1123	Calmodulin-binding.				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		AGCTGCTAACGTGGGAATCGG	0.622000													25	62					2.52637e-11	2.73308e-11	1	1	0
MCAM	4162	broad.mit.edu	37	11	119182661	119182661	+	Splice_Site	SNP	T	T	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr11:119182661T>A	uc001pwf.3	-	10	1173	c.1144_splice	c.e10-1	p.T382_splice	MCAM_uc001pwg.1_5'Flank	NM_006500	NP_006491	P43121	MUC18_HUMAN	Homo sapiens melanoma cell adhesion molecule (MCAM), mRNA.	382	Ig-like C2-type 2.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CTGGCCTGTCTGGGATGAGAG	0.632000													12	13					0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84896615	84896615	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr2:84896615G>A	uc010fgb.3	+	37	6424	c.6287G>A	c.(6286-6288)gGa>gAa	p.G2096E	DNAH6_uc002sor.3_Missense_Mutation_p.G117E	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	2096	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TTGTTTACTGGAATAACTGGA	0.428000													3	60					0	0	1	0	0
SKIL	6498	broad.mit.edu	37	3	170078913	170078913	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr3:170078913A>T	uc003fgu.3	+	1	1506	c.794A>T	c.(793-795)gAg>gTg	p.E265V	SKIL_uc011bps.2_Missense_Mutation_p.E245V|SKIL_uc003fgv.3_Missense_Mutation_p.E265V|SKIL_uc003fgw.3_Missense_Mutation_p.E265V	NM_005414	NP_005405	P12757	SKIL_HUMAN	Homo sapiens SKI-like oncogene (SKIL), transcript variant 1, mRNA.	265					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	PML body|cytoplasm	SMAD binding|chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TTTGAAGTGGAGCATGAATGC	0.453000													50	95					0	0	1	0	0
GPHN	10243	broad.mit.edu	37	14	67647539	67647539	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr14:67647539G>A	uc001xiy.3	+	21	3217	c.2096G>A	c.(2095-2097)cGt>cAt	p.R699H	GPHN_uc001xix.3_Missense_Mutation_p.R732H|GPHN_uc010tss.2_Missense_Mutation_p.R745H|GPHN_uc010tst.2_Missense_Mutation_p.R668H|GPHN_uc010tsu.2_Missense_Mutation_p.R622H	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	Homo sapiens gephyrin (GPHN), transcript variant 2, mRNA.	699	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		ATGAGCAGCCGTCTGATGAGC	0.458000			T	MLL	AL								49	57					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120158284	120158284	+	Splice_Site	SNP	T	T	C			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr12:120158284T>C	uc001txj.2	-	30	3896	c.3840_splice	c.e30+1	p.K1280_splice	CIT_uc001txh.2_Splice_Site_p.K772_splice|CIT_uc001txi.2_Splice_Site_p.K1238_splice	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1238	Interaction with Rho/Rac.				intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TTGACTCACCTTTTTCTTTTT	0.373000													60	53					0	0	1	0	0
FAM35A	54537	broad.mit.edu	37	10	88911776	88911776	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr10:88911776C>G	uc001kei.4	+	2	779	c.665C>G	c.(664-666)tCa>tGa	p.S222*		NM_019054	NP_061927	Q86V20	FA35A_HUMAN	Homo sapiens family with sequence similarity 35, member A (FAM35A), mRNA.	222										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						GTAGATAAGTCAAGGTCTGAA	0.398000													33	59					0	0	1	0	0
SMARCD2	6603	broad.mit.edu	37	17	61910338	61910338	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr17:61910338C>A	uc010deb.1	-	12	1873	c.1556G>T	c.(1555-1557)aGg>aTg	p.R519M	SMARCD2_uc010wpt.1_Missense_Mutation_p.R471M|SMARCD2_uc010dea.1_Missense_Mutation_p.R444M	NM_001098426	NP_001091896	Q92925	SMRD2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 (SMARCD2), mRNA.	519					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						CAGTTCCTGCCTTCGCTGCTG	0.587000													96	74					2.12943e-44	2.60264e-44	1	1	0
MAP4K3	8491	broad.mit.edu	37	2	39553361	39553361	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr2:39553361A>T	uc002rro.3	-	8	679	c.588T>A	c.(586-588)gaT>gaA	p.D196E	MAP4K3_uc002rrp.3_Missense_Mutation_p.D196E|MAP4K3_uc010yns.2_5'Flank	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 3 (MAP4K3), mRNA.	196	Protein kinase.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.D196N(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				CTGCCCAGAGATCACAGAGTT	0.423000													51	73					0	0	1	0	0
TMEM159	57146	broad.mit.edu	37	16	21185458	21185458	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr16:21185458G>C	uc010vbf.2	+	4	719	c.465G>C	c.(463-465)tgG>tgC	p.W155C	TMEM159_uc002dih.4_Missense_Mutation_p.W131C|TMEM159_uc002dif.4_Missense_Mutation_p.W131C|TMEM159_uc002dig.4_Non-coding_Transcript	NM_020422	NP_065155	Q96B96	TM159_HUMAN	Homo sapiens transmembrane protein 159 (TMEM159), mRNA.	131						integral to membrane		p.F155F(1)		large_intestine(3)|lung(2)|ovary(1)	6				GBM - Glioblastoma multiforme(48;0.0972)		TCAGCTGCTGGTTTTCTCCCA	0.428000													45	52					0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30987162	30987162	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr2:30987162A>G	uc021vfn.1	-	4	567	c.535T>C	c.(535-537)Tcc>Ccc	p.S179P	CAPN13_uc021vfm.1_Missense_Mutation_p.S179P|CAPN13_uc002rnp.1_Missense_Mutation_p.S179P	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	179	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TCGGAATAGGATCCGAGCAGC	0.577000													46	71					0	0	1	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139906526	139906526	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr5:139906526G>A	uc003lfs.2	+	26	5108	c.4954G>A	c.(4954-4956)Gtg>Atg	p.V1652M	ANKHD1-EIF4EBP3_uc003lfr.3_Missense_Mutation_p.V1652M|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.V391M|ANKHD1-EIF4EBP3_uc003lfw.3_Missense_Mutation_p.V290M|ANKHD1-EIF4EBP3_uc010jfl.3_Missense_Mutation_p.V87M|ANKHD1-EIF4EBP3_uc003lfx.1_5'Flank	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	1652						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAGGTGAAGTGACTCCTAA	0.383000													49	69					0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179339155	179339155	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr1:179339155C>G	uc001gmo.3	+	3	703	c.316C>G	c.(316-318)Cga>Gga	p.R106G	AXDND1_uc001gmn.2_5'UTR|AXDND1_uc010pnl.2_Non-coding_Transcript|AXDND1_uc009wxg.3_Non-coding_Transcript|AXDND1_uc021pfj.1_Missense_Mutation_p.R64G	NM_144696	NP_653297	Q5T1B0	AXDN1_HUMAN	Homo sapiens axonemal dynein light chain domain containing 1 (AXDND1), mRNA.	106										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						TCACCCTGTTCGAAGGAATAA	0.438000													31	47					0	0	1	0	0
PGK2	5232	broad.mit.edu	37	6	49753793	49753793	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr6:49753793C>G	uc003ozu.3	-	0	1261	c.1108G>C	c.(1108-1110)Gtt>Ctt	p.V370L		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	370					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	p.V370V(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CCCCCTATAACAGTGATGCAG	0.498000													48	107					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186672719	186672719	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr2:186672719T>C	uc002upl.3	+	16	18953	c.18953T>C	c.(18952-18954)aTt>aCt	p.I6318T	FSIP2_uc002upm.3_Intron	NM_173651	NP_775922			Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AAAAGTAAGATTAAACTTGTA	0.308000													9	92					0	0	1	0	0
ZSWIM6	57688	broad.mit.edu	37	5	60840060	60840060	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr5:60840060G>T	uc003jsr.3	+	13	3564	c.3564G>T	c.(3562-3564)caG>caT	p.Q1188H		NM_020928	NP_065979	Q9HCJ5	ZSWM6_HUMAN	Homo sapiens zinc finger, SWIM-type containing 6 (ZSWIM6), mRNA.	1188							zinc ion binding	p.I1187I(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)	8						GACACATTCAGTTTACACAGT	0.423000													39	65					2.46787e-29	2.85754e-29	1	1	0
TTN	7273	broad.mit.edu	37	2	179598545	179598545	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr2:179598545C>A	uc021vsy.1	-	49	12064	c.11839G>T	c.(11839-11841)Gtg>Ttg	p.V3947L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V608L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4874							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACCCTCTCACAGCAGCTTGC	0.423000													52	67					1.80625e-27	2.07326e-27	1	1	0
FAM182A	284800	broad.mit.edu	37	20	26061817	26061817	+	RNA	SNP	T	T	C	rs139582789	by1000genomes	TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr20:26061817T>C	uc010gdq.3	+	3		c.878T>C								Homo sapiens family with sequence similarity 182, member A (FAM182A), non-coding RNA.									p.C57R(2)		breast(1)|endometrium(2)|kidney(1)	4						TGATTTCTCCTGCTTAGAAAT	0.468000													3	74					0	0	1	0	0
RUFY3	22902	broad.mit.edu	37	4	71629308	71629308	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr4:71629308G>A	uc003hfr.3	+	2	987	c.392G>A	c.(391-393)gGg>gAg	p.G131E	RUFY3_uc003hfp.4_Missense_Mutation_p.G191E|RUFY3_uc003hfq.3_Missense_Mutation_p.G131E|RUFY3_uc011cax.2_Missense_Mutation_p.G149E|RUFY3_uc011cay.2_Missense_Mutation_p.G67E	NM_001037442	NP_001032519	Q7L099	RUFY3_HUMAN	Homo sapiens RUN and FYVE domain containing 3 (RUFY3), transcript variant 1, mRNA.	131	RUN.				negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			TCCTTCTGGGGGCCTCTAGAA	0.368000													39	38					0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52505969	52505969	+	Silent	SNP	C	C	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr3:52505969C>T	uc003ded.4	+	4	683	c.549C>T	c.(547-549)ttC>ttT	p.F183F	NISCH_uc003dec.1_Silent_p.F183F	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	183	Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		TCCTGGACTTCACCTGTCGCC	0.632000											OREG0015615	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	202					0	0	1	0	0
TBC1D26	353149	broad.mit.edu	37	17	15641610	15641610	+	Missense_Mutation	SNP	A	A	G	rs146288175	by1000genomes	TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr17:15641610A>G	uc010cov.3	+	6	546	c.296A>G	c.(295-297)tAc>tGc	p.Y99C	TBC1D26_uc010cou.1_Missense_Mutation_p.Y99C|TBC1D26_uc002gpb.4_Non-coding_Transcript	NM_178571	NP_848666	Q86UD7	TBC26_HUMAN	Homo sapiens TBC1 domain family, member 26 (TBC1D26), mRNA.	99						intracellular	Rab GTPase activator activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		CAAAGAGTATACAAAGTCATT	0.527000													6	187					0	0	1	0	0
ATP6V0D1	9114	broad.mit.edu	37	16	67487539	67487539	+	Silent	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr16:67487539G>A	uc010vjo.1	-	1	310	c.210C>T	c.(208-210)atC>atT	p.I70I	ATP6V0D1_uc002ete.1_Silent_p.I70I|ATP6V0D1_uc010vjn.1_5'UTR	NM_004691	NP_004682	P61421	VA0D1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1 (ATP6V0D1), mRNA.	70					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex				large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		GCCGGTCATCGATGACTGACA	0.532000													52	64					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114302186	114302186	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr7:114302186G>A	uc003vhb.3	+	13	2088	c.1714G>A	c.(1714-1716)Gta>Ata	p.V572I	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Missense_Mutation_p.V597I|FOXP2_uc003vha.3_Missense_Mutation_p.V480I|FOXP2_uc011kmv.2_Missense_Mutation_p.V571I|FOXP2_uc011kmu.2_Missense_Mutation_p.V589I|FOXP2_uc010ljz.2_Missense_Mutation_p.V387I|FOXP2_uc003vhe.1_Missense_Mutation_p.V142I	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	572					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						TAAAGGAGCAGTATGGACTGT	0.393000													42	130					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr2:207025366G>A	uc002vbg.1	+	2	247	c.135G>A	c.(133-135)ccG>ccA	p.P45P	NDUFS1_uc010ziq.2_5'Flank|NDUFS1_uc002vbe.3_5'Flank|NDUFS1_uc010zir.2_5'Flank|NDUFS1_uc010zis.2_5'Flank|NDUFS1_uc010zit.2_5'Flank|NDUFS1_uc010ziu.2_5'Flank|EEF1B2_uc002vbf.1_Silent_p.P45P|EEF1B2_uc002vbh.1_Silent_p.P45P|SNORD51_uc002vbi.1_5'Flank|SNORA41_uc002vbj.3_5'Flank	NM_021121	NP_066944	P24534	EF1B_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 beta 2 (EEF1B2), transcript variant 2, mRNA.	45	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.P45P(10)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448000													4	121					0	0	1	0	0
FAM161A	84140	broad.mit.edu	37	2	62067237	62067237	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr2:62067237T>C	uc002sbm.4	-	2	1004	c.902A>G	c.(901-903)aAg>aGg	p.K301R	FAM161A_uc002sbn.4_Missense_Mutation_p.K111R|FAM161A_uc010ypo.2_Missense_Mutation_p.K301R|FAM161A_uc010fcm.1_Non-coding_Transcript|FAM161A_uc010fcn.1_Missense_Mutation_p.K192R	NM_001201543	NP_001188472	Q3B820	F161A_HUMAN	Homo sapiens family with sequence similarity 161, member A (FAM161A), transcript variant 1, mRNA.	301					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTCTTTTTGCTTGACTAAATC	0.418000													16	20					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152536245	152536245	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr2:152536245G>C	uc021vrb.1	-	29	3274	c.3245C>G	c.(3244-3246)gCg>gGg	p.A1082G	NEB_uc002txu.3_Missense_Mutation_p.A1082G|NEB_uc021vrc.1_Missense_Mutation_p.A1082G|NEB_uc010fnx.3_Missense_Mutation_p.A1082G|NEB_uc021vrd.1_Missense_Mutation_p.A1082G	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1082					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTCACTCGCCGCCTGCCTGGC	0.512000													22	19					0	0	1	0	0
ACCSL	390110	broad.mit.edu	37	11	44079985	44079985	+	Silent	SNP	C	C	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr11:44079985C>T	uc001mxw.1	+	11	1502	c.1446C>T	c.(1444-1446)ctC>ctT	p.L482L	ACCSL_uc009ykr.2_Silent_p.L301L	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	Homo sapiens 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like (ACCSL), mRNA.	482							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						GCTCTGGCCTCTATGTCTGGA	0.532000													52	54					0	0	1	0	0
DOM3Z	1797	broad.mit.edu	37	6	31938842	31938842	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr6:31938842C>T	uc003nyp.1	-	2	772	c.439G>A	c.(439-441)Gag>Aag	p.E147K	DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_3'UTR|STK19_uc003nyt.3_5'Flank|STK19_uc011dow.2_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.3_5'Flank|STK19_uc003nyw.3_5'Flank|STK19_uc010jtn.1_5'Flank	NM_005510	NP_005501	O77932	DOM3Z_HUMAN	Homo sapiens dom-3 homolog Z (C. elegans) (DOM3Z), mRNA.	147							identical protein binding|metal ion binding|nucleotide binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7						TGCCAGCCCTCCTGCCGCTCA	0.642000													25	37					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64968540	64968540	+	Silent	SNP	A	A	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr10:64968540A>G	uc001jmn.3	-	9	3189	c.2889T>C	c.(2887-2889)ttT>ttC	p.F963F	JMJD1C_uc001jml.3_Silent_p.F744F|JMJD1C_uc001jmm.3_Silent_p.F675F|JMJD1C_uc010qiq.2_Silent_p.F781F|JMJD1C_uc009xpi.3_Silent_p.F781F|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc009xpk.1_5'UTR	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	963					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					ATGGTTCCATAAAAGCTTTTC	0.348000													10	15					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155313421	155313421	+	Silent	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr1:155313421G>A	uc009wqq.3	-	22	8589	c.8109C>T	c.(8107-8109)cgC>cgT	p.R2703R	ASH1L_uc001fkt.3_Silent_p.R2698R	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	2703	BAH.				DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GCTTCTCAATGCGAAAGATGT	0.493000													55	89					0	0	1	0	0
LMNA	4000	broad.mit.edu	37	1	156107474	156107474	+	Silent	SNP	A	A	C			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr1:156107474A>C	uc001fni.2	+	9	1887	c.1638A>C	c.(1636-1638)tcA>tcC	p.S546S	LMNA_uc001fnf.1_Silent_p.S546S|LMNA_uc001fng.2_Silent_p.S546S|LMNA_uc001fnh.2_Intron|LMNA_uc009wro.1_Silent_p.S546S|LMNA_uc010pgz.1_Silent_p.S434S|LMNA_uc001fnj.2_Silent_p.S465S|LMNA_uc001fnk.2_Silent_p.S447S|LMNA_uc010pha.1_Silent_p.S202S	NM_170707	NP_733821	P02545	LMNA_HUMAN	Homo sapiens lamin A/C (LMNA), transcript variant 1, mRNA.	546	Tail.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					TGGTGCGCTCAGTGACTGTGG	0.622000									Werner syndrome;Hutchinson-Gilford Progeria Syndrome				24	34					0	0	1	0	0
ZP2	7783	broad.mit.edu	37	16	21214557	21214557	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr16:21214557G>T	uc010bwn.1	-	9	1187	c.1105C>A	c.(1105-1107)Cta>Ata	p.L369I	ZP2_uc002dii.2_Missense_Mutation_p.L330I	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	330					binding of sperm to zona pellucida|intracellular protein transport	Golgi apparatus|endoplasmic reticulum|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TGATGGAGTAGGCATTTTTCA	0.483000													21	16					8.58068e-18	9.76423e-18	1	1	0
DDX58	23586	broad.mit.edu	37	9	32459420	32459420	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr9:32459420G>T	uc003zra.3	-	16	2588	c.2430C>A	c.(2428-2430)tgC>tgA	p.C810*	DDX58_uc010mjj.3_Non-coding_Transcript|DDX58_uc010mji.3_Nonsense_Mutation_p.C739*	NM_014314	NP_055129	O95786	DDX58_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 58 (DDX58), mRNA.	810	Repressor domain.				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		TGCACTTTCTGCAGAGCAGTT	0.388000													4	32					1	1	1	1	0
SF3B1	23451	broad.mit.edu	37	2	198265131	198265131	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr2:198265131T>C	uc002uue.3	-	18	2794	c.2746A>G	c.(2746-2748)Aca>Gca	p.T916A	SNORD2_uc021vul.1_5'Flank	NM_012433	NP_036565	O75533	SF3B1_HUMAN	Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.	916					nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTAACCACTGTGCCAAAGCCG	0.358000			Mis		myelodysplastic syndrome								63	74					0	0	1	0	0
GRIK3	2899	broad.mit.edu	37	1	37271815	37271815	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr1:37271815G>A	uc001caz.2	-	13	2339	c.2204C>T	c.(2203-2205)gCg>gTg	p.A735V	GRIK3_uc001cba.1_Missense_Mutation_p.A735V	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	735					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CATGAGCAGCGCGTAGTCGGC	0.612000													3	125					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116415115	116415115	+	Missense_Mutation	SNP	T	T	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr7:116415115T>G	uc003vij.3	+	14	3396	c.3209T>G	c.(3208-3210)gTg>gGg	p.V1070G	MET_uc010lkh.3_Missense_Mutation_p.V1088G|MET_uc011knj.2_Missense_Mutation_p.V640G	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	1070					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.V1088E(1)|p.Q1029_G1105del(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CAGCATGTAGTGATTGGGCCC	0.433000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				91	63					0	0	1	0	0
SETD1A	9739	broad.mit.edu	37	16	30976286	30976286	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr16:30976286C>A	uc002ead.1	+	6	1909	c.1223C>A	c.(1222-1224)tCt>tAt	p.S408Y		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	408	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|chromosome|nuclear speck	RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						TTCCCACCTTCTTACACCTCC	0.662000													15	31					6.94344e-10	7.51258e-10	1	1	0
CACNA2D2	9254	broad.mit.edu	37	3	50513567	50513567	+	Silent	SNP	G	G	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr3:50513567G>T	uc003daq.3	-	1	308	c.270C>A	c.(268-270)ggC>ggA	p.G90G	CACNA2D2_uc003dap.3_Silent_p.G90G	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	90					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	GCTGCTGGACGCCTCCAAAAA	0.597000													8	15					1.76689e-08	1.89618e-08	1	1	0
NDOR1	27158	broad.mit.edu	37	9	140108261	140108261	+	Missense_Mutation	SNP	G	G	A	rs139188702	byFrequency	TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr9:140108261G>A	uc004clx.3	+	3	452	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	NDOR1_uc004clw.3_Missense_Mutation_p.R114Q|NDOR1_uc011mes.2_Missense_Mutation_p.R114Q|NDOR1_uc004cly.3_Missense_Mutation_p.R114Q	NM_001144026	NP_001137498	Q9UHB4	NDOR1_HUMAN	Homo sapiens NADPH dependent diflavin oxidoreductase 1 (NDOR1), transcript variant 1, mRNA.	114	Flavodoxin-like.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	FMN binding|NADP binding|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		AAGCTGCACCGACGGCTACTG	0.677000													41	46					0	0	1	0	0
ATXN2	6311	broad.mit.edu	37	12	111926345	111926345	+	Silent	SNP	A	A	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr12:111926345A>G	uc001tsj.3	-	14	2817	c.2655T>C	c.(2653-2655)gtT>gtC	p.V885V	ATXN2_uc001tsh.3_Silent_p.V620V|ATXN2_uc001tsi.3_Silent_p.V596V|ATXN2_uc001tsk.3_Non-coding_Transcript	NM_002973	NP_002964	Q99700	ATX2_HUMAN	Homo sapiens ataxin 2 (ATXN2), mRNA.	885					RNA metabolic process|RNA transport|cell death|cytoplasmic mRNA processing body assembly|regulation of translation|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	RNA binding|protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TGGAAGTCTGAACCCCTTGGG	0.498000													65	55					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79820297	79820297	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr9:79820297A>G	uc004akr.3	+	3	516	c.256A>G	c.(256-258)Att>Gtt	p.I86V	VPS13A_uc004akp.4_Missense_Mutation_p.I86V|VPS13A_uc004akq.4_Missense_Mutation_p.I86V|VPS13A_uc004aks.3_Missense_Mutation_p.I86V	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	86					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATTGGAAGAAATTTATTTACT	0.229000													20	15					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78591182	78591182	+	Splice_Site	SNP	G	G	C			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr12:78591182G>C	uc001syp.3	+	35	6619	c.6446_splice	c.e35+1	p.C2149_splice	NAV3_uc001syo.3_Splice_Site_p.C2127_splice|NAV3_uc010sub.2_Splice_Site_p.C1606_splice|NAV3_uc009zsf.3_Splice_Site_p.C958_splice	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	2149						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACAACAAATGGTATGCTTATC	0.284000										HNSCC(70;0.22)			11	9					0	0	1	0	0
ANK1	286	broad.mit.edu	37	8	41547822	41547822	+	Silent	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr8:41547822G>A	uc003xok.3	-	32	4111	c.4027C>T	c.(4027-4029)Ctg>Ttg	p.L1343L	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Silent_p.L659L|ANK1_uc003xoi.3_Silent_p.L1343L|ANK1_uc003xoj.3_Silent_p.L1343L|ANK1_uc003xol.3_Silent_p.L1343L|ANK1_uc003xom.3_Silent_p.L1384L	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1343					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCCTTGCGCAGAAACGACAGG	0.597000													44	63					0	0	1	0	0
CTSL2	1515	broad.mit.edu	37	9	99799669	99799669	+	Missense_Mutation	SNP	T	T	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr9:99799669T>G	uc010msi.3	-	3	468	c.261A>C	c.(259-261)gaA>gaC	p.E87D	CTSL2_uc004awt.3_Missense_Mutation_p.E87D|CTSL2_uc004awu.3_Missense_Mutation_p.E32D|CTSL2_uc010msj.2_Missense_Mutation_p.E32D|CTSL2_uc010msk.3_Missense_Mutation_p.E32D	NM_001201575	NP_001188504	O60911	CATL2_HUMAN	Homo sapiens cathepsin L2 (CTSL2), transcript variant 2, mRNA.	87						lysosome	cysteine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(8)|lung(4)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(62;0.0559)				TCTGCCTGAATTCTTCATTGG	0.418000													47	50					0	0	1	0	0
GIGYF1	64599	broad.mit.edu	37	7	100279805	100279805	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr7:100279805C>T	uc003uwg.1	-	21	3824	c.2815G>A	c.(2815-2817)Gat>Aat	p.D939N		NM_022574	NP_072096	O75420	PERQ1_HUMAN	Homo sapiens GRB10 interacting GYF protein 1 (GIGYF1), mRNA.	939										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CGGATATAATCGTGGACATCA	0.597000													3	51					0	0	1	0	0
LRRC37A	9884	broad.mit.edu	37	17	44409918	44409918	+	Splice_Site	SNP	C	C	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr17:44409918C>T	uc002ikg.3	+	10	4708	c.4705_splice	c.e10-1	p.L1569_splice	ARL17B_uc002iki.4_Intron|ARL17B_uc002ikf.3_Intron|LRRC37A_uc002ikj.3_Splice_Site_p.L530_splice|LRRC37A_uc010daw.2_Splice_Site_p.L499_splice	NM_014834	NP_055649	A6NMS7	L37A1_HUMAN	Homo sapiens leucine rich repeat containing 37A (LRRC37A), mRNA.	1569						integral to membrane				endometrium(1)|lung(2)|pancreas(6)|prostate(1)|skin(1)	11		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		TTTTTTTTAGCTCAAAAAAGA	0.323000													3	110					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195506303	195506303	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr3:195506303G>T	uc021xjp.1	-	1	12304	c.12148C>A	c.(12148-12150)Cct>Act	p.P4050T	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	820					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.P4050T(3)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TTGGTGACAGGAAGAGGGGTG	0.572000													3	6					0.115264	0.116144	1	1	0
ACSM1	116285	broad.mit.edu	37	16	20681301	20681301	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr16:20681301A>T	uc002dhm.1	-	4	828	c.760T>A	c.(760-762)Tta>Ata	p.L254I	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.L254I	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	254					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						AGGCTCCGTAATTTCCTACTA	0.512000													63	97					0	0	1	0	0
DPCR1	135656	broad.mit.edu	37	6	30917934	30917934	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr6:30917934A>G	uc003nsg.2	+	1	1693	c.1693A>G	c.(1693-1695)Agg>Ggg	p.R565G		NM_080870	NP_543146	Q3MIW9	DPCR1_HUMAN	Homo sapiens diffuse panbronchiolitis critical region 1 (DPCR1), mRNA.	184						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						AAATGGAGACAGGACTCCTTT	0.502000													62	113					0	0	1	0	0
ARID2	196528	broad.mit.edu	37	12	46244883	46244883	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr12:46244883A>T	uc001ros.1	+	14	2977	c.2977A>T	c.(2977-2979)Acc>Tcc	p.T993S	ARID2_uc001ror.3_Missense_Mutation_p.T993S|ARID2_uc009zkg.1_Missense_Mutation_p.T449S|ARID2_uc009zkh.1_Missense_Mutation_p.T620S|ARID2_uc001rou.1_Missense_Mutation_p.T327S	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	993	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GTCGTCCTCTACCCCTCAATC	0.498000			"""N, S, F"""		hepatocellular carcinoma								95	223					0	0	1	0	0
KRT6B	3854	broad.mit.edu	37	12	52845508	52845508	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr12:52845508C>G	uc001sak.3	-	0	403	c.355G>C	c.(355-357)Gct>Cct	p.A119P		NM_005555	NP_005546	P04259	K2C6B_HUMAN	Homo sapiens keratin 6B (KRT6B), mRNA.	119	Head.			AGG -> LC (in Ref. 2; AAA59466).	ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		AAGCCACCAGCAAGGCCGGCT	0.627000													96	509					0	0	1	0	0
AP1G2	8906	broad.mit.edu	37	14	24030557	24030557	+	Silent	SNP	T	T	C			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr14:24030557T>C	uc001wkl.2	-	18	2278	c.1941A>G	c.(1939-1941)ccA>ccG	p.P647P	AP1G2_uc001wkk.3_Silent_p.P575P|AP1G2_uc001wkn.2_Silent_p.P266P|AX747770_uc001wko.1_Non-coding_Transcript|AP1G2_uc001wkp.1_Non-coding_Transcript	NM_003917	NP_003908	O75843	AP1G2_HUMAN	Homo sapiens adaptor-related protein complex 1, gamma 2 subunit (AP1G2), mRNA.	647					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		GGGCACCTCCTGGGGAGGGGT	0.577000													27	41					0	0	1	0	0
AGPS	8540	broad.mit.edu	37	2	178257747	178257747	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr2:178257747C>T	uc002ull.2	+	0	277	c.230C>T	c.(229-231)gCg>gTg	p.A77V	AGPS_uc010zfb.1_5'Flank|NFE2L2_uc002uli.4_5'Flank|NFE2L2_uc002ulk.1_5'Flank	NM_003659	NP_003650	O00116	ADAS_HUMAN	Homo sapiens alkylglycerone phosphate synthase (AGPS), mRNA.	77					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			ACTCCCGCCGCGCAGGAGTCG	0.692000													24	16					0	0	1	0	0
UBE2N	7334	broad.mit.edu	37	12	93804921	93804921	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr12:93804921T>A	uc001tcp.3	-	1	551	c.185A>T	c.(184-186)tAc>tTc	p.Y62F		NM_003348	NP_003339	P61088	UBE2N_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2N (UBE2N), mRNA.	62					DNA double-strand break processing|MyD88-dependent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|double-strand break repair via homologous recombination|histone ubiquitination|innate immune response|positive regulation of DNA repair|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of histone modification|positive regulation of ubiquitin-protein ligase activity|postreplication repair|protein K63-linked ubiquitination|proteolysis|regulation of histone ubiquitination|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	UBC13-MMS2 complex|UBC13-UEV1A complex|cytosol|nucleus|ubiquitin ligase complex	ATP binding|ubiquitin binding|ubiquitin-protein ligase activity			endometrium(3)|liver(2)|lung(5)	10						TGCCATTGGGTATTCTTCTGG	0.413000								Direct reversal of damage;Rad6 pathway					56	206					0	0	1	0	0
KIAA0564	23078	broad.mit.edu	37	13	42440068	42440068	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr13:42440068C>T	uc001uyj.3	-	10	1387	c.1317G>A	c.(1315-1317)atG>atA	p.M439I	KIAA0564_uc001uyk.3_Missense_Mutation_p.M439I	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	439						extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		TATCTTTAACCATGTGAGACT	0.418000													27	32					0	0	1	0	0
ZBTB10	65986	broad.mit.edu	37	8	81412103	81412103	+	Silent	SNP	T	T	C			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr8:81412103T>C	uc003ybx.4	+	1	1945	c.1347T>C	c.(1345-1347)agT>agC	p.S449S	ZBTB10_uc003ybv.4_Silent_p.S157S|ZBTB10_uc003ybw.4_Silent_p.S449S|ZBTB10_uc022awq.1_Silent_p.S449S|ZBTB10_uc010lzt.3_Silent_p.S449S|ZBTB10_uc022awr.1_Non-coding_Transcript	NM_001105539	NP_001099009	Q96DT7	ZBT10_HUMAN	Homo sapiens zinc finger and BTB domain containing 10 (ZBTB10), transcript variant 1, mRNA.	449					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			TTCAAATGAGTGAAGTTGTTC	0.373000													17	34					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204948504	204948504	+	Missense_Mutation	SNP	T	T	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr1:204948504T>G	uc010prc.2	+	17	2223	c.694T>G	c.(694-696)Ttt>Gtt	p.F232V	NFASC_uc001hbj.3_Missense_Mutation_p.F665V|NFASC_uc010pra.2_Missense_Mutation_p.F661V|NFASC_uc001hbi.3_Missense_Mutation_p.F661V|NFASC_uc010prb.2_Missense_Mutation_p.F676V|NFASC_uc001hbk.1_Missense_Mutation_p.F471V|NFASC_uc001hbl.2_5'Flank			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	665					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CGTCGTCCAGTTTGAAGAAGA	0.522000													95	164					0	0	1	0	0
SRGAP1	57522	broad.mit.edu	37	12	64521384	64521384	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr12:64521384C>G	uc010ssp.1	+	19	2476	c.2420C>G	c.(2419-2421)tCa>tGa	p.S807*	SRGAP1_uc001srv.2_Nonsense_Mutation_p.S744*	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA.	807					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		GATACGTTTTCAGACACTCTG	0.438000													124	78					0	0	1	0	0
THAP11	57215	broad.mit.edu	37	16	67876718	67876718	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr16:67876718G>T	uc002euo.3	+	0	506	c.261G>T	c.(259-261)gaG>gaT	p.E87D	CENPT_uc002eun.4_Intron	NM_020457	NP_065190	Q96EK4	THA11_HUMAN	Homo sapiens THAP domain containing 11 (THAP11), mRNA.	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		GCGTCAATGAGCGCAAAGTAG	0.687000													9	12					3.07112e-06	3.2431e-06	1	1	0
SCN11A	11280	broad.mit.edu	37	3	38966961	38966961	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr3:38966961C>G	uc021wvy.1	-	4	856	c.657G>C	c.(655-657)ttG>ttC	p.L219F		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	219					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	TACGCAGGGGCAATAGTTTGA	0.463000													45	62					0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46875643	46875643	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr21:46875643C>G	uc002zhi.3	+	0	220	c.199C>G	c.(199-201)Cgg>Ggg	p.R67G	COL18A1_uc002zhg.3_Intron	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	67					cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CGTGACCCCCCGGAATGGTTC	0.647000													46	59					0	0	1	0	0
AASS	10157	broad.mit.edu	37	7	121717970	121717970	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr7:121717970C>A	uc003vka.3	-	21	2680	c.2584G>T	c.(2584-2586)Ggg>Tgg	p.G862W	AASS_uc011knu.2_Non-coding_Transcript|AASS_uc011knv.2_Non-coding_Transcript|AASS_uc003vkb.3_Missense_Mutation_p.G862W|AASS_uc011knw.2_Missense_Mutation_p.G350W	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	Homo sapiens aminoadipate-semialdehyde synthase (AASS), nuclear gene encoding mitochondrial protein, mRNA.	862	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	TTGATGTCCCCATAAGCCACA	0.438000													16	155					1.00905e-13	1.11928e-13	1	1	0
LIPE	3991	broad.mit.edu	37	19	42911843	42911843	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr19:42911843G>T	uc002otr.3	-	4	2034	c.1757C>A	c.(1756-1758)aCg>aAg	p.T586K	AK311181_uc010eif.1_Intron	NM_005357	NP_005348	Q05469	LIPS_HUMAN	Homo sapiens lipase, hormone-sensitive (LIPE), mRNA.	586					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				GATGGTGACCGTGAGCGTGGG	0.642000													34	38					9.9191e-30	1.15869e-29	1	1	0
KIAA1549	57670	broad.mit.edu	37	7	138566237	138566237	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr7:138566237G>T	uc011kql.2	-	10	4175	c.4126C>A	c.(4126-4128)Cca>Aca	p.P1376T	KIAA1549_uc011kqi.2_Missense_Mutation_p.P160T|KIAA1549_uc011kqk.2_Missense_Mutation_p.P160T|KIAA1549_uc011kqj.2_Missense_Mutation_p.P1376T	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1376						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CCTGGCAGTGGCGCTGGCTCA	0.512000			O	BRAF	pilocytic astrocytoma								60	156					6.26901e-30	7.38848e-30	1	1	0
PKD1L1	168507	broad.mit.edu	37	7	47969095	47969095	+	Missense_Mutation	SNP	G	G	A	rs147089153		TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr7:47969095G>A	uc003tny.2	-	6	800	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	256					cell-cell adhesion	integral to membrane		p.R256H(1)	BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CTGGGGGTGCGAGGAATGCCA	0.577000													4	135					0	0	1	0	0
RBMXL3	139804	broad.mit.edu	37	X	114426385	114426385	+	Missense_Mutation	SNP	G	G	A	rs80194951	by1000genomes	TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chrX:114426385G>A	uc011mte.1	+	0	2423	c.2381G>A	c.(2380-2382)cGc>cAc	p.R794H	LRCH2_uc010nqe.3_Intron|LRCH2_uc004epz.3_Intron	NM_001145346	NP_001138818	Q8N7X1	RMXL3_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 3 (RBMXL3), mRNA.	794	Gly-rich.			R -> H (in Ref. 1; AK097568).			RNA binding|nucleotide binding			endometrium(13)|kidney(2)|skin(1)	16						AGCGGAGGCCGCTCACCCAAT	0.662000													3	26					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204948503	204948503	+	Silent	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr1:204948503G>A	uc010prc.2	+	17	2222	c.693G>A	c.(691-693)caG>caA	p.Q231Q	NFASC_uc001hbj.3_Silent_p.Q664Q|NFASC_uc010pra.2_Silent_p.Q660Q|NFASC_uc001hbi.3_Silent_p.Q660Q|NFASC_uc010prb.2_Silent_p.Q675Q|NFASC_uc001hbk.1_Silent_p.Q470Q|NFASC_uc001hbl.2_5'Flank			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	664					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACGTCGTCCAGTTTGAAGAAG	0.522000													96	164					0	0	1	0	0
TTC4	7268	broad.mit.edu	37	1	55183223	55183223	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr1:55183223G>C	uc001cxv.3	+	2	453	c.321G>C	c.(319-321)aaG>aaC	p.K107N	HEATR8_uc001cxq.3_Non-coding_Transcript|TTC4_uc001cxx.4_Missense_Mutation_p.K96N			O95801	TTC4_HUMAN	Homo sapiens tetratricopeptide repeat domain 4 (TTC4), mRNA.	96							binding			breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						AAGACTACAAGAAAGCTGTAA	0.368000													42	74					0	0	1	0	0
TDRD3	81550	broad.mit.edu	37	13	61060035	61060035	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr13:61060035G>A	uc001vhz.4	+	6	1179	c.391G>A	c.(391-393)Gaa>Aaa	p.E131K	TDRD3_uc010aef.2_5'UTR|TDRD3_uc001via.3_Missense_Mutation_p.E131K|TDRD3_uc010aeg.3_Missense_Mutation_p.E224K|TDRD3_uc001vib.4_Missense_Mutation_p.E130K	NM_001146071	NP_110421	Q9H7E2	TDRD3_HUMAN	Homo sapiens tudor domain containing 3 (TDRD3), transcript variant 3, mRNA.	131					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		TGATGAATTTGAAAAGCAAAG	0.348000													3	41					0	0	1	0	0
LTB4R2	56413	broad.mit.edu	37	14	24780385	24780385	+	Missense_Mutation	SNP	A	A	C			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr14:24780385A>C	uc021rrp.1	+	0	515	c.515A>C	c.(514-516)cAc>cCc	p.H172P	CIDEB_uc001woo.3_5'UTR|CIDEB_uc001wop.3_5'UTR|LTB4R2_uc010alo.3_Missense_Mutation_p.H172P|LTB4R2_uc001wor.3_Missense_Mutation_p.H172P|LTB4R_uc001wos.3_5'Flank|LTB4R_uc010alp.3_5'Flank	NM_019839	NP_062813	Q9NPC1	LT4R2_HUMAN	Homo sapiens leukotriene B4 receptor 2 (LTB4R2), transcript variant 1, mRNA.	203					chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane				endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		CAGCTGTGCCACCCGTCGCCG	0.711000													2	5					0	0	1	0	0
PLXNB1	5364	broad.mit.edu	37	3	48465285	48465285	+	Missense_Mutation	SNP	C	C	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr3:48465285C>T	uc003csw.2	-	2	1006	c.736G>A	c.(736-738)Gcc>Acc	p.A246T	PLXNB1_uc003csu.2_Missense_Mutation_p.A246T|PLXNB1_uc003csx.2_Missense_Mutation_p.A246T|PLXNB1_uc010hjx.1_Non-coding_Transcript	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	246	Sema.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GATACATAGGCACGAAAAGCT	0.607000													62	81					0	0	1	0	0
UMODL1	89766	broad.mit.edu	37	21	43547904	43547904	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr21:43547904G>T	uc002zag.1	+	18	4037	c.4037G>T	c.(4036-4038)cGc>cTc	p.R1346L	UMODL1_uc002zad.1_Missense_Mutation_p.R1146L|UMODL1_uc002zae.1_Missense_Mutation_p.R1274L|UMODL1_uc002zaf.1_Missense_Mutation_p.R1218L|UMODL1_uc002zal.1_Missense_Mutation_p.R168L|UMODL1_uc010gpa.1_Non-coding_Transcript	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	1218						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TGCAAACTCCGCGTCTGCATG	0.468000													78	110					5.01286e-43	6.07061e-43	1	1	0
LHX1	3975	broad.mit.edu	37	17	35297912	35297912	+	Missense_Mutation	SNP	A	A	C			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr17:35297912A>C	uc002hnh.2	+	2	1126	c.403A>C	c.(403-405)Acg>Ccg	p.T135P	LHX1_uc010cux.1_Missense_Mutation_p.T43P	NM_005568	NP_005559	P48742	LHX1_HUMAN	Homo sapiens LIM homeobox 1 (LHX1), mRNA.	135					S-shaped body morphogenesis|cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.T134T(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				CTTAGCCACCACGGGCAGTGA	0.647000													29	113					0	0	1	0	0
GUSBP1	728411	broad.mit.edu	37	5	21459831	21459831	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr5:21459831A>G	uc010iub.3	+	1	150	c.70A>G	c.(70-72)Acc>Gcc	p.T24A	GUSBP1_uc011cnn.1_Non-coding_Transcript|GUSBP1_uc003jgh.4_Non-coding_Transcript|GUSBP1_uc003jgf.3_Missense_Mutation_p.T24A|GUSBP1_uc003jgg.4_Non-coding_Transcript					Homo sapiens glucuronidase, beta pseudogene 1 (GUSBP1), transcript variant 3, non-coding RNA.																		GCTTGCGGTCACCATGGGCTT	0.632000											OREG0016459	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	41	67					0	0	1	0	0
LGALS9	3965	broad.mit.edu	37	17	25967635	25967635	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr17:25967635G>A	uc002gzp.3	+	2	287	c.169G>A	c.(169-171)Gac>Aac	p.D57N	LGALS9_uc002gzq.3_Missense_Mutation_p.D57N|LGALS9_uc002gzr.3_Intron|LGALS9_uc010waa.2_Intron	NM_009587	NP_033665	O00182	LEG9_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 9 (LGALS9), transcript variant 1, mRNA.	57	Galectin 1.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		CAGTGGAAATGACATTGCCTT	0.527000													169	492					0	0	1	0	0
RTKN	6242	broad.mit.edu	37	2	74656034	74656034	+	Missense_Mutation	SNP	A	A	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr2:74656034A>G	uc002sle.3	-	6	908	c.791T>C	c.(790-792)cTc>cCc	p.L264P	RTKN_uc002slc.3_Missense_Mutation_p.L251P|RTKN_uc002sld.3_Missense_Mutation_p.L214P	NM_001015055	NP_001015056	Q9BST9	RTKN_HUMAN	Homo sapiens rhotekin (RTKN), transcript variant 1, mRNA.	264					Rho protein signal transduction|apoptosis|regulation of anti-apoptosis	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						TGCCAGGGTGAGTGTGGTGTG	0.552000													56	132					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12274330	12274330	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr12:12274330G>C	uc001rah.4	-	22	4714	c.4572C>G	c.(4570-4572)caC>caG	p.H1524Q	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.H1479Q	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	1524					Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GGGGTGCAAAGTGCCGGTAGC	0.463000													30	98					0	0	1	0	0
TMC4	147798	broad.mit.edu	37	19	54669261	54669261	+	Silent	SNP	G	G	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr19:54669261G>T	uc010erf.3	-	5	987	c.855C>A	c.(853-855)tcC>tcA	p.S285S	TMC4_uc002qdn.3_5'Flank|TMC4_uc002qdo.3_Silent_p.S279S	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN	Homo sapiens transmembrane channel-like 4 (TMC4), transcript variant 1, mRNA.	285						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TCAGAGCCTCGGACTCCGCCA	0.652000													18	20					3.83957e-06	4.02241e-06	1	1	0
GAB4	128954	broad.mit.edu	37	22	17488934	17488934	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr22:17488934G>A	uc002zlw.3	-	0	179	c.71C>T	c.(70-72)tCg>tTg	p.S24L	GAB4_uc010gqs.1_Missense_Mutation_p.S24L	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	24										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TCCGGGCCACGAAGACAAAGG	0.682000													11	22					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13814812	13814812	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr5:13814812C>A	uc003jfd.2	-	42	7174	c.7132G>T	c.(7132-7134)Gag>Tag	p.E2378*		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2378	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTATGAGGCTCGAAAATGATC	0.418000									Kartagener syndrome				43	54					2.31418e-15	2.58875e-15	1	1	0
SIGLEC10	89790	broad.mit.edu	37	19	51918318	51918318	+	Missense_Mutation	SNP	C	C	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr19:51918318C>G	uc002pwo.3	-	7	1597	c.1375G>C	c.(1375-1377)Ggt>Cgt	p.G459R	SIGLEC10_uc002pwp.3_Missense_Mutation_p.G401R|SIGLEC10_uc021uyl.1_Intron|SIGLEC10_uc002pwq.3_Intron|SIGLEC10_uc010ycz.2_Intron|SIGLEC10_uc002pws.2_Intron|SIGLEC10_uc002pwr.3_Intron|SIGLEC10_uc010ycy.2_Intron|SIGLEC10_uc010eow.3_Intron|LOC100129083_uc021uym.1_5'Flank	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	459					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CAGTGCAGACCCTCAGCCTCC	0.692000													6	12					0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55033659	55033659	+	Missense_Mutation	SNP	C	C	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr20:55033659C>A	uc002xxp.2	+	6	2442	c.2217C>A	c.(2215-2217)caC>caA	p.H739Q	CASS4_uc010zze.1_Missense_Mutation_p.H685Q|CASS4_uc002xxr.2_Missense_Mutation_p.H739Q|CASS4_uc010gio.2_Missense_Mutation_p.H302Q	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	739					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GCAGCAGTCACCTCTGCAGCC	0.642000													9	65					0.00829132	0.00848414	1	1	0
WIPI1	55062	broad.mit.edu	37	17	66440668	66440668	+	Silent	SNP	C	C	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr17:66440668C>T	uc010dey.3	-	3	487	c.396G>A	c.(394-396)ttG>ttA	p.L132L	WIPI1_uc010wqo.2_Silent_p.L50L	NM_017983	NP_060453	Q5MNZ9	WIPI1_HUMAN	Homo sapiens WD repeat domain, phosphoinositide interacting 1 (WIPI1), mRNA.	132					macroautophagy|vesicle targeting, trans-Golgi to endosome	PAS complex|autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						GGAGGGTCTTCAACAGCTTCA	0.433000													24	62					0	0	1	0	0
RBBP8	5932	broad.mit.edu	37	18	20562277	20562277	+	Silent	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr18:20562277G>A	uc002kua.3	+	6	648	c.525G>A	c.(523-525)cgG>cgA	p.R175R	RBBP8_uc002ktw.3_Silent_p.R175R|RBBP8_uc002kty.3_Silent_p.R175R|RBBP8_uc002ktz.3_Silent_p.R175R|RBBP8_uc002ktx.1_Silent_p.R175R	NM_203291	NP_976036	Q99708	COM1_HUMAN	Homo sapiens retinoblastoma binding protein 8 (RBBP8), transcript variant 2, mRNA.	175					DNA double-strand break processing involved in repair via single-strand annealing|cell cycle checkpoint|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			GCGTTAACCGGCTACGAAGAA	0.433000								Homologous recombination					33	69					0	0	1	0	0
SIX4	51804	broad.mit.edu	37	14	61186919	61186919	+	Missense_Mutation	SNP	T	T	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr14:61186919T>A	uc001xfc.3	-	1	1168	c.1108A>T	c.(1108-1110)Att>Ttt	p.I370F	SIX4_uc010app.1_Missense_Mutation_p.I362F	NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN	Homo sapiens SIX homeobox 4 (SIX4), mRNA.	370						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GGTCCCTGAATAAAAGAATTT	0.398000													32	56					0	0	1	0	0
JAK2	3717	broad.mit.edu	37	9	5078361	5078361	+	Missense_Mutation	SNP	G	G	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr9:5078361G>T	uc010mhm.3	+	14	2161	c.2048G>T	c.(2047-2049)aGa>aTa	p.R683I	JAK2_uc003ziw.3_Missense_Mutation_p.R683I	NM_004972	NP_004963	O60674	JAK2_HUMAN	Homo sapiens Janus kinase 2 (JAK2), mRNA.	683	Protein kinase 1.				JAK-STAT cascade involved in growth hormone signaling pathway|STAT protein import into nucleus|actin filament polymerization|activation of JAK2 kinase activity|activation of caspase activity by protein phosphorylation|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of DNA binding|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|SH2 domain binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding	p.R683G(59)|p.R683S(18)|p.R683?(16)|p.R683T(5)|p.R683K(3)|p.I682F(2)|p.I682_D686>(2)|p.I682_R683insTG(2)|p.L681_I682insTPYEGMPGH(1)|p.(I682_E684)insQG(1)|p.I682_R683>RG(1)|p.I682>MPAP(1)|p.I682>RTL(1)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		CTGCTTATCAGAGAAGAAGAC	0.363000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				17	35					4.16121e-05	4.32504e-05	1	1	0
SLC2A14	144195	broad.mit.edu	37	12	7984344	7984344	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr12:7984344A>T	uc010sgh.2	-	2	263	c.242T>A	c.(241-243)aTc>aAc	p.I81N	SLC2A14_uc001qtk.3_Missense_Mutation_p.I66N|SLC2A14_uc001qtl.3_Missense_Mutation_p.I43N|SLC2A14_uc001qtm.3_Missense_Mutation_p.I43N|SLC2A14_uc010sgg.2_Intron|SLC2A14_uc001qtn.3_Missense_Mutation_p.I66N|SLC2A14_uc001qto.3_Intron	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.	66					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		AGTTTTATTGATAAATTCCTT	0.458000											OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	100					0	0	1	0	0
REXO1	57455	broad.mit.edu	37	19	1817252	1817252	+	Missense_Mutation	SNP	G	G	C			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr19:1817252G>C	uc002lua.4	-	11	3262	c.3167C>G	c.(3166-3168)aCc>aGc	p.T1056S	REXO1_uc010dsq.3_Missense_Mutation_p.T365S|REXO1_uc010xgs.1_Missense_Mutation_p.T42S|REXO1_uc021umm.1_5'Flank|REXO1_uc010dsp.1_Non-coding_Transcript	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.	1056						nucleus	exonuclease activity|nucleic acid binding	p.T1056I(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCGGGTGGGTGTCTCCTGA	0.642000													17	29					0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116415114	116415114	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr7:116415114G>A	uc003vij.3	+	14	3395	c.3208G>A	c.(3208-3210)Gtg>Atg	p.V1070M	MET_uc010lkh.3_Missense_Mutation_p.V1088M|MET_uc011knj.2_Missense_Mutation_p.V640M	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	1070					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.Q1029_G1105del(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GCAGCATGTAGTGATTGGGCC	0.433000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				89	63					0	0	1	0	0
FASTKD3	79072	broad.mit.edu	37	5	7867451	7867451	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr5:7867451T>C	uc003jeb.3	-	1	918	c.746A>G	c.(745-747)gAa>gGa	p.E249G	FASTKD3_uc011cmp.2_5'UTR|FASTKD3_uc003jec.3_Intron|MTRR_uc010itn.1_5'Flank|MTRR_uc003jed.3_5'Flank|MTRR_uc003jee.4_5'Flank|MTRR_uc003jef.4_5'Flank|MTRR_uc003jeg.4_5'Flank|MTRR_uc010ito.3_5'Flank	NM_024091	NP_076996	Q14CZ7	FAKD3_HUMAN	Homo sapiens FAST kinase domains 3 (FASTKD3), transcript variant 1, mRNA.	249					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGTAAATGTTTCCAATTTTTC	0.368000													9	20					0	0	1	0	0
XPO1	7514	broad.mit.edu	37	2	61705989	61705989	+	Missense_Mutation	SNP	T	T	C			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr2:61705989T>C	uc010ypn.2	-	25	3311	c.3182A>G	c.(3181-3183)aAt>aGt	p.N1061S	XPO1_uc010fcl.3_Missense_Mutation_p.N1057S|XPO1_uc002sbj.3_Missense_Mutation_p.N1061S|XPO1_uc002sbk.3_Missense_Mutation_p.N622S|XPO1_uc002sbh.3_Missense_Mutation_p.N708S	NM_003400	NP_003391	O14980	XPO1_HUMAN	Homo sapiens exportin 1 (CRM1 homolog, yeast) (XPO1), mRNA.	1061					intracellular protein transport|mRNA metabolic process|mRNA transport|mitotic prometaphase|viral genome transport in host cell|viral infectious cycle	Cajal body|annulate lamellae|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	RNA binding|protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			CTCATGTGGATTAAAGATGCC	0.393000			Mis		CLL								14	18					0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14559362	14559362	+	Silent	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr3:14559362G>A	uc021wtn.1	-	11	1362	c.1362C>T	c.(1360-1362)tgC>tgT	p.C454C		NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	358					synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						AGGAGGGCACGCAGGGGTCCC	0.652000													19	12					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108381026	108381026	+	Silent	SNP	T	T	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr11:108381026T>G	uc001pkk.3	-	5	5319	c.5208A>C	c.(5206-5208)acA>acC	p.T1736T	EXPH5_uc010rvz.2_Silent_p.T1580T|EXPH5_uc010rvy.2_Silent_p.T1548T	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1736					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GGCTGGTGAATGTGATGGGTG	0.468000													37	58					0	0	1	0	0
SLCO4A1	28231	broad.mit.edu	37	20	61300283	61300283	+	Splice_Site	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr20:61300283G>A	uc002ydb.1	+	11	2082	c.1877_splice	c.e11-1	p.G626_splice	LOC100127888_uc002ydd.3_5'Flank|SLCO4A1_uc002yde.1_Splice_Site_p.G28_splice	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4A1 (SLCO4A1), mRNA.	626					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			TCTCCGCAGGGGGCATCCCGG	0.662000											OREG0026115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	6					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16969641	16969641	+	Splice_Site	SNP	C	C	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr1:16969641C>T	uc001azg.1	-	2		c.39_splice	c.e2-1		CROCCP2_uc001azi.1_Splice_Site|CROCCP2_uc001azj.1_Splice_Site|MST1P2_uc009vow.2_5'Flank|MST1P2_uc010ocg.1_5'Flank|MST1P2_uc010och.2_5'Flank					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		GTCCTGGAGGCTGAGGCAGAC	0.632000													35	220					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179598544	179598544	+	Missense_Mutation	SNP	A	A	C			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr2:179598544A>C	uc021vsy.1	-	49	12065	c.11840T>G	c.(11839-11841)gTg>gGg	p.V3947G	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V608G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4874							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGACCCTCTCACAGCAGCTTG	0.428000													54	66					0	0	1	0	0
CHD1L	9557	broad.mit.edu	37	1	146747123	146747123	+	Silent	SNP	C	C	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr1:146747123C>A	uc001epm.4	+	12	1440	c.1377C>A	c.(1375-1377)ggC>ggA	p.G459G	CHD1L_uc001epn.4_Silent_p.G346G|CHD1L_uc010ozo.2_Non-coding_Transcript|CHD1L_uc009wjg.3_Non-coding_Transcript|CHD1L_uc009wjh.3_Silent_p.G365G|CHD1L_uc010ozp.2_Silent_p.G178G|CHD1L_uc001epo.4_Silent_p.G255G|CHD1L_uc010ozq.1_Silent_p.G32G|CHD1L_uc009wji.3_Silent_p.G178G	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1-like (CHD1L), transcript variant 1, mRNA.	459	Helicase C-terminal.				DNA repair|chromatin remodeling	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					ATCGCATTGGCCAAAACAAGT	0.443000													26	47					3.28513e-13	3.61364e-13	1	1	0
DNAH6	1768	broad.mit.edu	37	2	84846836	84846836	+	Silent	SNP	T	T	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr2:84846836T>G	uc010fgb.3	+	23	3737	c.3600T>G	c.(3598-3600)ctT>ctG	p.L1200L		NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	1200	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATGATGAACTTCTGGAGATTT	0.383000													21	26					0	0	1	0	0
NSUN2	54888	broad.mit.edu	37	5	6600168	6600168	+	Silent	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr5:6600168G>A	uc003jdu.3	-	18	2556	c.2175C>T	c.(2173-2175)acC>acT	p.T725T	NSUN2_uc003jdt.3_Silent_p.T489T|NSUN2_uc011cmk.2_Silent_p.T690T|NSUN2_uc003jdv.3_Silent_p.T489T	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	Homo sapiens NOP2/Sun domain family, member 2 (NSUN2), transcript variant 1, mRNA.	725						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CTGGCTGTCCGGTGCTGGCTG	0.537000													56	64					0	0	1	0	0
P4HA1	5033	broad.mit.edu	37	10	74810906	74810906	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr10:74810906G>A	uc021ptk.1	-	5	837	c.805C>T	c.(805-807)Cag>Tag	p.Q269*	P4HA1_uc010qka.2_Nonsense_Mutation_p.Q269*|P4HA1_uc001jth.3_Nonsense_Mutation_p.Q269*|P4HA1_uc001jtg.3_Nonsense_Mutation_p.Q269*|P4HA1_uc010qkb.2_Nonsense_Mutation_p.Q269*|P4HA1_uc021ptj.1_Nonsense_Mutation_p.Q269*	NM_001142595	NP_001136067	P13674	P4HA1_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide I (P4HA1), transcript variant 3, mRNA.	269						endoplasmic reticulum lumen|mitochondrion	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GTAGTTTTCTGATCAGATTGG	0.388000													28	23					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120158284	120158284	+	Splice_Site	SNP	T	T	C			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr12:120158284T>C	uc001txj.2	-	30	3896	c.3840_splice	c.e30+1	p.K1280_splice	CIT_uc001txh.2_Splice_Site_p.K772_splice|CIT_uc001txi.2_Splice_Site_p.K1238_splice	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1238	Interaction with Rho/Rac.				intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TTGACTCACCTTTTTCTTTTT	0.373000													60	53					0	0	1	0	0
PHACTR1	221692	broad.mit.edu	37	6	13230366	13230366	+	Silent	SNP	C	C	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr6:13230366C>A	uc003nah.2	+	9	1705	c.1332C>A	c.(1330-1332)ccC>ccA	p.P444P	PHACTR1_uc011dir.2_Silent_p.P513P|PHACTR1_uc010jpc.3_Silent_p.P444P|PHACTR1_uc003nag.2_Silent_p.P444P	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Homo sapiens phosphatase and actin regulator 1 (PHACTR1), transcript variant 1, mRNA.	444						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			ACATCCTTCCCAGGCAGACGG	0.597000													74	84					4.00405e-42	4.80486e-42	1	1	0
TRPM4	54795	broad.mit.edu	37	19	49714007	49714007	+	Silent	SNP	G	G	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr19:49714007G>T	uc002pmw.3	+	21	3477	c.3369G>T	c.(3367-3369)acG>acT	p.T1123T	TRPM4_uc010emu.3_Silent_p.T978T|TRPM4_uc010yak.2_Silent_p.T587T|TRPM4_uc002pmx.3_Silent_p.T949T|TRPM4_uc010emv.3_Silent_p.T1008T|TRPM4_uc010yal.2_Silent_p.T769T|TRPM4_uc002pmy.3_Silent_p.T465T	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	1123	Calmodulin-binding.				dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		AGCTGCTAACGTGGGAATCGG	0.622000													25	62					2.52637e-11	2.75604e-11	1	1	0
MCAM	4162	broad.mit.edu	37	11	119182661	119182661	+	Splice_Site	SNP	T	T	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr11:119182661T>A	uc001pwf.3	-	10	1173	c.1144_splice	c.e10-1	p.T382_splice	MCAM_uc001pwg.1_5'Flank	NM_006500	NP_006491	P43121	MUC18_HUMAN	Homo sapiens melanoma cell adhesion molecule (MCAM), mRNA.	382	Ig-like C2-type 2.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CTGGCCTGTCTGGGATGAGAG	0.632000													12	13					0	0	1	0	0
DNAH6	1768	broad.mit.edu	37	2	84896615	84896615	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr2:84896615G>A	uc010fgb.3	+	37	6424	c.6287G>A	c.(6286-6288)gGa>gAa	p.G2096E	DNAH6_uc002sor.3_Missense_Mutation_p.G117E	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	2096	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TTGTTTACTGGAATAACTGGA	0.428000													3	60					0	0	1	0	0
SKIL	6498	broad.mit.edu	37	3	170078913	170078913	+	Missense_Mutation	SNP	A	A	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr3:170078913A>T	uc003fgu.3	+	1	1506	c.794A>T	c.(793-795)gAg>gTg	p.E265V	SKIL_uc011bps.2_Missense_Mutation_p.E245V|SKIL_uc003fgv.3_Missense_Mutation_p.E265V|SKIL_uc003fgw.3_Missense_Mutation_p.E265V	NM_005414	NP_005405	P12757	SKIL_HUMAN	Homo sapiens SKI-like oncogene (SKIL), transcript variant 1, mRNA.	265					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	PML body|cytoplasm	SMAD binding|chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TTTGAAGTGGAGCATGAATGC	0.453000													50	95					0	0	1	0	0
GPHN	10243	broad.mit.edu	37	14	67647539	67647539	+	Missense_Mutation	SNP	G	G	A			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr14:67647539G>A	uc001xiy.3	+	21	3217	c.2096G>A	c.(2095-2097)cGt>cAt	p.R699H	GPHN_uc001xix.3_Missense_Mutation_p.R732H|GPHN_uc010tss.2_Missense_Mutation_p.R745H|GPHN_uc010tst.2_Missense_Mutation_p.R668H|GPHN_uc010tsu.2_Missense_Mutation_p.R622H	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	Homo sapiens gephyrin (GPHN), transcript variant 2, mRNA.	699	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		ATGAGCAGCCGTCTGATGAGC	0.458000			T	MLL	AL								49	57					0	0	1	0	0
AASS	10157	broad.mit.edu	37	7	121717971	121717971	+	Silent	SNP	A	A	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr7:121717971A>G	uc003vka.3	-	21	2679	c.2583T>C	c.(2581-2583)taT>taC	p.Y861Y	AASS_uc011knu.2_Non-coding_Transcript|AASS_uc011knv.2_Non-coding_Transcript|AASS_uc003vkb.3_Silent_p.Y861Y|AASS_uc011knw.2_Silent_p.Y349Y	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	Homo sapiens aminoadipate-semialdehyde synthase (AASS), nuclear gene encoding mitochondrial protein, mRNA.	861	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	TGATGTCCCCATAAGCCACAA	0.433000													17	152					0	0	1	0	0
FAM35A	54537	broad.mit.edu	37	10	88911776	88911776	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr10:88911776C>G	uc001kei.4	+	2	779	c.665C>G	c.(664-666)tCa>tGa	p.S222*		NM_019054	NP_061927	Q86V20	FA35A_HUMAN	Homo sapiens family with sequence similarity 35, member A (FAM35A), mRNA.	222										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						GTAGATAAGTCAAGGTCTGAA	0.398000													33	59					0	0	1	0	0
ALG6	29929	broad.mit.edu	37	1	63868011	63868011	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr1:63868011delA	uc021oof.1	+	3	559	c.254delA	c.(253-255)tatfs	p.Y85fs		NM_013339	NP_037471	Q9Y672	ALG6_HUMAN	Homo sapiens asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) (ALG6), mRNA.	85					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CTATGTGCATATGTGTAAGTT	0.353													19	18	---	---	---	---					
RAF1	5894	broad.mit.edu	37	3	12653543	12653543	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr3:12653543delT	uc003bxf.4	-	2	641	c.226delA	c.(226-228)atgfs	p.M76fs	RAF1_uc011aut.2_5'Flank|RAF1_uc011auu.2_Intron	NM_002880	NP_002871	P04049	RAF1_HUMAN	Homo sapiens v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1), mRNA.	76	RBD.				Ras protein signal transduction|activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	TGCAAGCTCATTCCATTTCGC	0.498			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				55	64	---	---	---	---					
LRPAP1	4043	broad.mit.edu	37	4	3534063	3534077	+	In_Frame_Del	DEL	CAGGGCCCGAGGAAG	CAGGGCCCGAGGAAG	-			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr4:3534063_3534077delCAGGGCCCGAGGAAG	uc003ghh.4	-	0	148_162	c.63_77delCTTCCTCGGGCCCTG	c.(61-78)ctcttcctcgggccctgg>ctg	p.FLGPW22del		NM_002337	NP_002328	P30533	AMRP_HUMAN	Homo sapiens low density lipoprotein receptor-related protein associated protein 1 (LRPAP1), mRNA.	22					negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		CGCAGCGGGCCAGGGCCCGAGGAAGAGCAGCAGCA	0.674													7	22	---	---	---	---					
DSPP	1834	broad.mit.edu	37	4	88536929	88536937	+	In_Frame_Del	DEL	AGCAGCGAT	AGCAGCGAT	-	rs140478071	by1000genomes	TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr4:88536929_88536937delAGCAGCGAT	uc003hqu.3	+	4	3235_3243	c.3115_3123delAGCAGCGAT	c.(3115-3123)agcagcgatdel	p.SSD1051del		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	Homo sapiens dentin sialophosphoprotein (DSPP), mRNA.	1051	Asp/Ser-rich.				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		tagcagtgacagcagcgatagcagtgaca	0.522													24	247	---	---	---	---					
MDN1	23195	broad.mit.edu	37	6	90466095	90466095	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr6:90466095delT	uc003pnn.1	-	19	2833	c.2717delA	c.(2716-2718)tatfs	p.Y906fs	MDN1_uc003pno.1_Frame_Shift_Del_p.Y325fs	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	906					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTCTTCTACATAAAGTTCTGT	0.299													8	31	---	---	---	---					
TRAF3IP2	10758	broad.mit.edu	37	6	111912891	111912891	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr6:111912891delA	uc011ebc.2	-	2	1014	c.399delT	c.(397-399)tttfs	p.F133fs	TRAF3IP2-AS1_uc021zdu.1_Intron|TRAF3IP2-AS1_uc021zdv.1_Intron|TRAF3IP2_uc003pvg.3_Frame_Shift_Del_p.F133fs|TRAF3IP2_uc003pvf.3_Frame_Shift_Del_p.F133fs|TRAF3IP2_uc010kdw.3_Frame_Shift_Del_p.F133fs|TRAF3IP2_uc010kdx.2_Frame_Shift_Del_p.F133fs	NM_147686	NP_679211	O43734	CIKS_HUMAN	Homo sapiens TRAF3 interacting protein 2 (TRAF3IP2), transcript variant 2, mRNA.	142					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		GTTTTTCCATAAATGAAAACT	0.512													32	55	---	---	---	---					
WWP1	11059	broad.mit.edu	37	8	87447714	87447715	+	Frame_Shift_Ins	INS	-	-	AATTTTT	rs139712565	by1000genomes	TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr8:87447714_87447715insAATTTTT	uc003ydt.3	+	14	1915_1916	c.1635_1636insAATTTTT	c.(1633-1638)cgcggcfs	p.R545fs	WWP1_uc010mai.3_Frame_Shift_Ins_p.R321fs	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 1 (WWP1), mRNA.	545					central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						CTTATGAACGCGGCTTTAGGTG	0.302													17	98	---	---	---	---					
DHTKD1	55526	broad.mit.edu	37	10	12162862	12162863	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr10:12162862_12162863insT	uc001ild.4	+	16	2834_2835	c.2735_2736insT	c.(2734-2736)gatfs	p.D912fs		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	Homo sapiens dehydrogenase E1 and transketolase domain containing 1 (DHTKD1), nuclear gene encoding mitochondrial protein, mRNA.	912					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CAGCATGAAGATATCCTCGCCA	0.500													37	52	---	---	---	---					
TDRD1	56165	broad.mit.edu	37	10	115947630	115947635	+	In_Frame_Del	DEL	AATTTG	AATTTG	-			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr10:115947630_115947635delAATTTG	uc001lbg.1	+	1	193_198	c.40_45delAATTTG	c.(40-45)aatttgdel	p.NL14del	TDRD1_uc001lbf.3_In_Frame_Del_p.NL5del|TDRD1_uc001lbh.1_In_Frame_Del_p.NL5del|TDRD1_uc001lbi.1_In_Frame_Del_p.NL5del	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	14					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GTCAAGAAATAATTTGGAAGCACCTC	0.345													20	51	---	---	---	---					
CNTF	1270	broad.mit.edu	37	11	58391968	58391968	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr11:58391968delT	uc001nna.4	+	1	656	c.576delT	c.(574-576)catfs	p.H192fs	CNTF_uc010rkm.2_Non-coding_Transcript	NM_000614	NP_000605	P26441	CNTF_HUMAN	Homo sapiens ciliary neurotrophic factor (CNTF), mRNA.	192					ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding			NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GTGGGAGCCATTATATTGCTA	0.468													28	40	---	---	---	---					
RELA	5970	broad.mit.edu	37	11	65425828	65425840	+	Frame_Shift_Del	DEL	GGAGACACGCACA	GGAGACACGCACA	-			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr11:65425828_65425840delGGAGACACGCACA	uc010ron.2	-	7	968_980	c.828_840delTGTGCGTGTCTCC	c.(826-840)cctgtgcgtgtctccfs	p.P276fs	RELA_uc001off.3_Frame_Shift_Del_p.P265fs|RELA_uc001ofh.3_Frame_Shift_Del_p.P262fs|RELA_uc001ofg.3_Frame_Shift_Del_p.P265fs|RELA_uc021qlq.1_Frame_Shift_Del_p.P265fs|RELA_uc009yqr.3_Frame_Shift_Del_p.P212fs|RELA_uc001ofe.2_Frame_Shift_Del_p.P265fs|RELA_uc009yqs.1_Intron	NM_021975	NP_068810	Q04206	TF65_HUMAN	Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog A (avian) (RELA), transcript variant 1, mRNA.	265	RHD.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to UV-B|response to interleukin-1|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	NF-kappaB binding|activating transcription factor binding|chromatin binding|identical protein binding|phosphate binding|protein N-terminus binding|protein kinase binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding	p.S276F(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GCAGCTGCATGGAGACACGCACAGGAGCCTGCA	0.634													18	60	---	---	---	---					
TSKU	25987	broad.mit.edu	37	11	76507649	76507654	+	In_Frame_Del	DEL	GCTCCA	GCTCCA	-			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr11:76507649_76507654delGCTCCA	uc021qno.1	+	0	989_994	c.989_994delGCTCCA	c.(988-996)ggctccagc>ggc	p.SS331del	TSKU_uc001oxt.3_In_Frame_Del_p.SS331del	NM_015516	NP_056331	Q8WUA8	TSK_HUMAN	Homo sapiens tsukushi small leucine rich proteoglycan homolog (Xenopus laevis) (TSKU), mRNA.	331						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					CGGAGGCCTGGCTCCAGCCCCAAGGT	0.689													6	6	---	---	---	---					
BCL2L14	79370	broad.mit.edu	37	12	12247627	12247628	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr12:12247627_12247628delCT	uc001rac.3	+	4	909_910	c.708_709delCT	c.(706-711)cacttcfs	p.H236fs	ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_Intron|BCL2L14_uc001rad.3_Frame_Shift_Del_p.H236fs|BCL2L14_uc001rae.3_3'UTR	NM_138723	NP_620049	Q9BZR8	B2L14_HUMAN	Homo sapiens BCL2-like 14 (apoptosis facilitator) (BCL2L14), transcript variant 4, mRNA.	236					apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		TGATGGGCCACTTCCAGGATGG	0.490													71	205	---	---	---	---					
EML5	161436	broad.mit.edu	37	14	89171882	89171883	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr14:89171882_89171883insT	uc021ryf.1	-	11	2124_2125	c.1875_1876insA	c.(1873-1878)gatgttfs	p.D625fs	EML5_uc021ryg.1_Frame_Shift_Ins_p.D625fs|EML5_uc001xxh.1_5'UTR	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	625						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AGTTCTGGAACATCAGACAGAT	0.337													18	21	---	---	---	---					
RYR3	6263	broad.mit.edu	37	15	34130027	34130027	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr15:34130027delA	uc001zhi.3	+	88	11916	c.11846delA	c.(11845-11847)gaafs	p.E3949fs	RYR3_uc010bar.3_Frame_Shift_Del_p.E3944fs	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3949	EF-hand.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.G3949G(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAGGCCATGGAAGGGCAAAAA	0.403													45	38	---	---	---	---					
CSE1L	1434	broad.mit.edu	37	20	47705894	47705895	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr20:47705894_47705895insTT	uc002xty.3	+	17	2066_2067	c.1932_1933insTT	c.(1930-1935)ttgtttfs	p.L644fs	CSE1L_uc010zyg.2_Frame_Shift_Ins_p.L427fs|CSE1L_uc010ghx.3_Frame_Shift_Ins_p.L588fs|CSE1L_uc010ghy.3_Frame_Shift_Ins_p.L265fs|CSE1L_uc010zyh.2_Frame_Shift_Ins_p.L293fs	NM_001316	NP_001307	P55060	XPO2_HUMAN	Homo sapiens CSE1 chromosome segregation 1-like (yeast) (CSE1L), transcript variant 1, mRNA.	644					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			AGGAGGCTTTGTTTTTGGTGTT	0.312													15	47	---	---	---	---					
KRTAP19-7	337974	broad.mit.edu	37	21	31933587	31933587	+	Frame_Shift_Del	DEL	A	A	-	rs149420565		TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr21:31933587delA	uc011adb.2	-	0	22	c.22delT	c.(22-24)tatfs	p.Y8fs		NM_181614	NP_853645	Q3SYF9	KR197_HUMAN	Homo sapiens keratin associated protein 19-7 (KRTAP19-7), mRNA.	8						intermediate filament				endometrium(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	11						AGGCCTCCATAGTAGCTGCCG	0.522													104	116	---	---	---	---					
EP300	2033	broad.mit.edu	37	22	41558757	41558757	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	b95ff063-202c-47ad-a9fa-d2f922585ae7	g.chr22:41558757delA	uc003azl.4	+	20	4097	c.3702delA	c.(3700-3702)agafs	p.R1234fs		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	1234					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding	p.Y1198_L1243del(2)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TTTCCAAGAGAAAAAATGACA	0.368			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				51	82	---	---	---	---					
MST1P2	11209	broad.mit.edu	37	1	16974860	16974865	+	RNA	DEL	GCCAGC	GCCAGC	-			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr1:16974860_16974865delGCCAGC	uc010och.2	+	6		c.1320_1325delGCCAGC			MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GGTGTCCAGTGCCAGCGCGGGTCCGC	0.709													3	6	---	---	---	---					
ALG6	29929	broad.mit.edu	37	1	63868011	63868011	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr1:63868011delA	uc021oof.1	+	3	559	c.254delA	c.(253-255)tatfs	p.Y85fs		NM_013339	NP_037471	Q9Y672	ALG6_HUMAN	Homo sapiens asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae) (ALG6), mRNA.	85					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CTATGTGCATATGTGTAAGTT	0.353													19	18	---	---	---	---					
SPRR3	6707	broad.mit.edu	37	1	152975659	152975682	+	In_Frame_Del	DEL	GAGCCAGGCTGTACCAAGGTCCCT	GAGCCAGGCTGTACCAAGGTCCCT	-	rs67156933	byFrequency	TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr1:152975659_152975682delGAGCCAGGCTGTACCAAGGTCCCT	uc021ozo.1	+	0	163_186	c.163_186delGAGCCAGGCTGTACCAAGGTCCCT	c.(163-186)gagccaggctgtaccaaggtccctdel	p.EPGCTKVP95del	SPRR3_uc001fax.4_In_Frame_Del_p.EPGCTKVP95del|SPRR3_uc001faz.4_In_Frame_Del_p.EPGCTKVP95del|SPRR3_uc001fay.2_Splice_Site_p.K60_splice	NM_005416	NP_005407	Q9UBC9	SPRR3_HUMAN	Homo sapiens small proline-rich protein 3 (SPRR3), transcript variant 1, mRNA.	95	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity	p.E95G(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAAGATTCCAGAGCCAGGCTGTACCAAGGTCCCTGAGCCAGGCT	0.562													39	157	---	---	---	---					
RAF1	5894	broad.mit.edu	37	3	12653543	12653543	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr3:12653543delT	uc003bxf.4	-	2	641	c.226delA	c.(226-228)atgfs	p.M76fs	RAF1_uc011aut.2_5'Flank|RAF1_uc011auu.2_Intron	NM_002880	NP_002871	P04049	RAF1_HUMAN	Homo sapiens v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1), mRNA.	76	RBD.				Ras protein signal transduction|activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	TGCAAGCTCATTCCATTTCGC	0.498			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				55	64	---	---	---	---					
LRPAP1	4043	broad.mit.edu	37	4	3534063	3534077	+	In_Frame_Del	DEL	CAGGGCCCGAGGAAG	CAGGGCCCGAGGAAG	-			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr4:3534063_3534077delCAGGGCCCGAGGAAG	uc003ghh.4	-	0	148_162	c.63_77delCTTCCTCGGGCCCTG	c.(61-78)ctcttcctcgggccctgg>ctg	p.FLGPW22del		NM_002337	NP_002328	P30533	AMRP_HUMAN	Homo sapiens low density lipoprotein receptor-related protein associated protein 1 (LRPAP1), mRNA.	22					negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		CGCAGCGGGCCAGGGCCCGAGGAAGAGCAGCAGCA	0.674													7	22	---	---	---	---					
PCDHB10	56126	broad.mit.edu	37	5	140573408	140573411	+	Frame_Shift_Del	DEL	CACC	CACC	-			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr5:140573408_140573411delCACC	uc003lix.3	+	0	1457_1460	c.1283_1286delCACC	c.(1282-1287)acacccfs	p.T428fs		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	428	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACTTGGGGACACCCAGGCTGAAA	0.539													33	109	---	---	---	---					
MDN1	23195	broad.mit.edu	37	6	90466095	90466095	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr6:90466095delT	uc003pnn.1	-	19	2833	c.2717delA	c.(2716-2718)tatfs	p.Y906fs	MDN1_uc003pno.1_Frame_Shift_Del_p.Y325fs	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	906					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTCTTCTACATAAAGTTCTGT	0.299													8	31	---	---	---	---					
TRAF3IP2	10758	broad.mit.edu	37	6	111912891	111912891	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr6:111912891delA	uc011ebc.2	-	2	1014	c.399delT	c.(397-399)tttfs	p.F133fs	TRAF3IP2-AS1_uc021zdu.1_Intron|TRAF3IP2-AS1_uc021zdv.1_Intron|TRAF3IP2_uc003pvg.3_Frame_Shift_Del_p.F133fs|TRAF3IP2_uc003pvf.3_Frame_Shift_Del_p.F133fs|TRAF3IP2_uc010kdw.3_Frame_Shift_Del_p.F133fs|TRAF3IP2_uc010kdx.2_Frame_Shift_Del_p.F133fs	NM_147686	NP_679211	O43734	CIKS_HUMAN	Homo sapiens TRAF3 interacting protein 2 (TRAF3IP2), transcript variant 2, mRNA.	142					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		GTTTTTCCATAAATGAAAACT	0.512													32	55	---	---	---	---					
TBP	6908	broad.mit.edu	37	6	170871013	170871014	+	In_Frame_Ins	INS	-	-	CAG	rs72320253		TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr6:170871013_170871014insCAG	uc003qxu.3	+	2	468_469	c.189_190insCAG	c.(187-192)insCAG	p.95_96insQ	TBP_uc011ehf.2_In_Frame_Ins_p.75_76insQ|TBP_uc003qxt.3_In_Frame_Ins_p.95_96insQ|TBP_uc011ehg.1_In_Frame_Ins_p.95_96insQ	NM_003194	NP_001165556	P20226	TBP_HUMAN	Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.	95	Poly-Gln.		Missing.		cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q63_Q64insQ(1)|p.Q63Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacaacaacagcagcagca	0.550													41	21	---	---	---	---					
WWP1	11059	broad.mit.edu	37	8	87447714	87447715	+	Frame_Shift_Ins	INS	-	-	AATTTTT	rs139712565	by1000genomes	TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr8:87447714_87447715insAATTTTT	uc003ydt.3	+	14	1915_1916	c.1635_1636insAATTTTT	c.(1633-1638)cgcggcfs	p.R545fs	WWP1_uc010mai.3_Frame_Shift_Ins_p.R321fs	NM_007013	NP_008944	Q9H0M0	WWP1_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 1 (WWP1), mRNA.	545					central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						CTTATGAACGCGGCTTTAGGTG	0.302													17	98	---	---	---	---					
DHTKD1	55526	broad.mit.edu	37	10	12162862	12162863	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr10:12162862_12162863insT	uc001ild.4	+	16	2834_2835	c.2735_2736insT	c.(2734-2736)gatfs	p.D912fs		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	Homo sapiens dehydrogenase E1 and transketolase domain containing 1 (DHTKD1), nuclear gene encoding mitochondrial protein, mRNA.	912					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CAGCATGAAGATATCCTCGCCA	0.500													37	52	---	---	---	---					
TDRD1	56165	broad.mit.edu	37	10	115947630	115947635	+	In_Frame_Del	DEL	AATTTG	AATTTG	-			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr10:115947630_115947635delAATTTG	uc001lbg.1	+	1	193_198	c.40_45delAATTTG	c.(40-45)aatttgdel	p.NL14del	TDRD1_uc001lbf.3_In_Frame_Del_p.NL5del|TDRD1_uc001lbh.1_In_Frame_Del_p.NL5del|TDRD1_uc001lbi.1_In_Frame_Del_p.NL5del	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	14					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GTCAAGAAATAATTTGGAAGCACCTC	0.345													20	51	---	---	---	---					
TSKU	25987	broad.mit.edu	37	11	76507649	76507654	+	In_Frame_Del	DEL	GCTCCA	GCTCCA	-			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr11:76507649_76507654delGCTCCA	uc021qno.1	+	0	989_994	c.989_994delGCTCCA	c.(988-996)ggctccagc>ggc	p.SS331del	TSKU_uc001oxt.3_In_Frame_Del_p.SS331del	NM_015516	NP_056331	Q8WUA8	TSK_HUMAN	Homo sapiens tsukushi small leucine rich proteoglycan homolog (Xenopus laevis) (TSKU), mRNA.	331						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					CGGAGGCCTGGCTCCAGCCCCAAGGT	0.689													6	6	---	---	---	---					
DDX12P	440081	broad.mit.edu	37	12	9573305	9573305	+	RNA	DEL	G	G	-			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr12:9573305delG	uc021qut.1	-	10		c.2093delC			DDX12P_uc001qvx.4_Intron|DDX12P_uc001qvy.1_5'Flank					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.																		gagggagggagggagCCCCCA	0.582													38	25	---	---	---	---					
BCL2L14	79370	broad.mit.edu	37	12	12247627	12247628	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr12:12247627_12247628delCT	uc001rac.3	+	4	909_910	c.708_709delCT	c.(706-711)cacttcfs	p.H236fs	ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_Intron|BCL2L14_uc001rad.3_Frame_Shift_Del_p.H236fs|BCL2L14_uc001rae.3_3'UTR	NM_138723	NP_620049	Q9BZR8	B2L14_HUMAN	Homo sapiens BCL2-like 14 (apoptosis facilitator) (BCL2L14), transcript variant 4, mRNA.	236					apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		TGATGGGCCACTTCCAGGATGG	0.490													71	205	---	---	---	---					
EML5	161436	broad.mit.edu	37	14	89171882	89171883	+	Frame_Shift_Ins	INS	-	-	T			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr14:89171882_89171883insT	uc021ryf.1	-	11	2124_2125	c.1875_1876insA	c.(1873-1878)gatgttfs	p.D625fs	EML5_uc021ryg.1_Frame_Shift_Ins_p.D625fs|EML5_uc001xxh.1_5'UTR	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	625						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AGTTCTGGAACATCAGACAGAT	0.337													18	21	---	---	---	---					
RYR3	6263	broad.mit.edu	37	15	34130027	34130027	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr15:34130027delA	uc001zhi.3	+	88	11916	c.11846delA	c.(11845-11847)gaafs	p.E3949fs	RYR3_uc010bar.3_Frame_Shift_Del_p.E3944fs	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3949	EF-hand.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.G3949G(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAGGCCATGGAAGGGCAAAAA	0.403													45	38	---	---	---	---					
CSE1L	1434	broad.mit.edu	37	20	47705894	47705895	+	Frame_Shift_Ins	INS	-	-	TT			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr20:47705894_47705895insTT	uc002xty.3	+	17	2066_2067	c.1932_1933insTT	c.(1930-1935)ttgtttfs	p.L644fs	CSE1L_uc010zyg.2_Frame_Shift_Ins_p.L427fs|CSE1L_uc010ghx.3_Frame_Shift_Ins_p.L588fs|CSE1L_uc010ghy.3_Frame_Shift_Ins_p.L265fs|CSE1L_uc010zyh.2_Frame_Shift_Ins_p.L293fs	NM_001316	NP_001307	P55060	XPO2_HUMAN	Homo sapiens CSE1 chromosome segregation 1-like (yeast) (CSE1L), transcript variant 1, mRNA.	644					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			AGGAGGCTTTGTTTTTGGTGTT	0.312													15	47	---	---	---	---					
KRTAP19-7	337974	broad.mit.edu	37	21	31933587	31933587	+	Frame_Shift_Del	DEL	A	A	-	rs149420565		TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr21:31933587delA	uc011adb.2	-	0	22	c.22delT	c.(22-24)tatfs	p.Y8fs		NM_181614	NP_853645	Q3SYF9	KR197_HUMAN	Homo sapiens keratin associated protein 19-7 (KRTAP19-7), mRNA.	8						intermediate filament				endometrium(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	11						AGGCCTCCATAGTAGCTGCCG	0.522													104	116	---	---	---	---					
EP300	2033	broad.mit.edu	37	22	41558757	41558757	+	Frame_Shift_Del	DEL	A	A	-			TCGA-GL-A59R-01A-11D-A26P-10	TCGA-GL-A59R-11A-11D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c504d5a9-29b0-4b7e-ac7b-5e543449a0f4	8cd33021-2e2d-4193-bf1a-473a5499abd0	g.chr22:41558757delA	uc003azl.4	+	20	4097	c.3702delA	c.(3700-3702)agafs	p.R1234fs		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	1234					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|N-terminal peptidyl-lysine acetylation|apoptosis|cell cycle|histone H4 acetylation|interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	DNA binding|RNA polymerase II activating transcription factor binding|androgen receptor binding|beta-catenin binding|histone acetyltransferase activity|transcription coactivator activity|zinc ion binding	p.Y1198_L1243del(2)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TTTCCAAGAGAAAAAATGACA	0.368			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				51	82	---	---	---	---					
